DATE ADDED TO CATALOG
date32
PUBMEDID
int64
FIRST AUTHOR
string
DATE
date32
JOURNAL
string
LINK
string
STUDY
string
DISEASE/TRAIT
string
INITIAL SAMPLE SIZE
string
REPLICATION SAMPLE SIZE
string
REGION
string
CHR_ID
string
CHR_POS
string
REPORTED GENE(S)
string
MAPPED_GENE
string
UPSTREAM_GENE_ID
string
DOWNSTREAM_GENE_ID
string
SNP_GENE_IDS
string
UPSTREAM_GENE_DISTANCE
int64
DOWNSTREAM_GENE_DISTANCE
int64
STRONGEST SNP-RISK ALLELE
string
SNPS
string
MERGED
int64
SNP_ID_CURRENT
string
CONTEXT
string
INTERGENIC
int64
RISK ALLELE FREQUENCY
string
P-VALUE
float64
PVALUE_MLOG
float64
P-VALUE (TEXT)
string
OR or BETA
float64
95% CI (TEXT)
string
PLATFORM [SNPS PASSING QC]
string
CNV
string
MAPPED_TRAIT
string
MAPPED_TRAIT_URI
string
STUDY ACCESSION
string
GENOTYPING TECHNOLOGY
string
2008-06-16
17,434,096
Matarin M
2007-05-06
Lancet Neurol
www.ncbi.nlm.nih.gov/pubmed/17434096
A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release.
Stroke
249 European ancestry cases, 268 European ancestry controls
NA
18p11.21
18
11987273
IMPA2
IMPA2
null
null
ENSG00000141401
null
null
rs7506045-?
rs7506045
0
7506045
intron_variant
0
0.10
0.000001
6.154902
null
5.39
[2.77-10.5]
Illumina [408803]
N
stroke
http://www.ebi.ac.uk/efo/EFO_0000712
GCST000032
Genome-wide genotyping array
2008-06-16
17,434,096
Matarin M
2007-05-06
Lancet Neurol
www.ncbi.nlm.nih.gov/pubmed/17434096
A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release.
Stroke
249 European ancestry cases, 268 European ancestry controls
NA
13q14.3
13
54006952
intergenic
LINC00458
null
null
ENSG00000234787
null
null
rs9536591-?
rs9536591
0
9536591
intron_variant
0
0.10
0.000006
5.221849
null
1.92
[1.41-2.63]
Illumina [408803]
N
stroke
http://www.ebi.ac.uk/efo/EFO_0000712
GCST000032
Genome-wide genotyping array
2008-06-16
17,434,096
Matarin M
2007-05-06
Lancet Neurol
www.ncbi.nlm.nih.gov/pubmed/17434096
A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release.
Stroke
249 European ancestry cases, 268 European ancestry controls
NA
6q21
6
106539495
AIM1
CRYBG1
null
null
ENSG00000112297
null
null
rs783396-?
rs783396
0
783396
missense_variant
0
0.90
0.000009
5.045757
null
2.17
[1.47-3.13]
Illumina [408803]
N
stroke
http://www.ebi.ac.uk/efo/EFO_0000712
GCST000032
Genome-wide genotyping array
2008-06-16
17,434,096
Matarin M
2007-05-06
Lancet Neurol
www.ncbi.nlm.nih.gov/pubmed/17434096
A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release.
Stroke
249 European ancestry cases, 268 European ancestry controls
NA
7p21.2
7
15703161
intergenic
LINC02587
null
null
ENSG00000229108
null
null
rs10486776-?
rs10486776
0
10486776
intron_variant
0
0.10
0.000006
5.221849
null
5.62
[2.66-11.9]
Illumina [408803]
N
stroke
http://www.ebi.ac.uk/efo/EFO_0000712
GCST000032
Genome-wide genotyping array
2014-01-07
21,041,247
Perlis RH
2010-11-01
Am J Psychiatry
www.ncbi.nlm.nih.gov/pubmed/21041247
Genome-wide association study of suicide attempts in mood disorder patients.
Suicide risk
3,117 European ancestry Bipolar disorder cases, 1,273 European ancestry Major depressive disorder cases
2,698 European ancestry Bipolar disorder cases, 1,649 Major depressive disorder cases
21q22.2
21
39649825
IGSF5, B3GALT5
B3GALT5
null
null
ENSG00000183778
null
null
rs10854398-C
rs10854398
0
10854398
intron_variant
0
NR
0.000006
5.221849
null
1.178
null
Affymetrix [1922309] (imputed)
N
mental or behavioural disorder, attempted suicide
http://www.ebi.ac.uk/efo/EFO_0000677, http://www.ebi.ac.uk/efo/EFO_0004321
GCST000854
Genome-wide genotyping array
2014-01-07
21,041,247
Perlis RH
2010-11-01
Am J Psychiatry
www.ncbi.nlm.nih.gov/pubmed/21041247
Genome-wide association study of suicide attempts in mood disorder patients.
Suicide risk
3,117 European ancestry Bipolar disorder cases, 1,273 European ancestry Major depressive disorder cases
2,698 European ancestry Bipolar disorder cases, 1,649 Major depressive disorder cases
2p21
2
46093955
intergenic
PRKCE
null
null
ENSG00000171132
null
null
rs12373805-A
rs12373805
0
12373805
intron_variant
0
NR
0.000009
5.045757
null
1.2169
null
Affymetrix [1922309] (imputed)
N
mental or behavioural disorder, attempted suicide
http://www.ebi.ac.uk/efo/EFO_0000677, http://www.ebi.ac.uk/efo/EFO_0004321
GCST000854
Genome-wide genotyping array
2014-01-07
21,041,247
Perlis RH
2010-11-01
Am J Psychiatry
www.ncbi.nlm.nih.gov/pubmed/21041247
Genome-wide association study of suicide attempts in mood disorder patients.
Suicide risk
3,117 European ancestry Bipolar disorder cases, 1,273 European ancestry Major depressive disorder cases
2,698 European ancestry Bipolar disorder cases, 1,649 Major depressive disorder cases
10q24.1
10
95362484
PDLIM1, SORBS1
SORBS1
null
null
ENSG00000095637
null
null
rs4918918-T
rs4918918
0
4918918
intron_variant
0
NR
0.000003
5.522879
null
1.18
null
Affymetrix [1922309] (imputed)
N
mental or behavioural disorder, attempted suicide
http://www.ebi.ac.uk/efo/EFO_0000677, http://www.ebi.ac.uk/efo/EFO_0004321
GCST000854
Genome-wide genotyping array
2014-01-07
21,041,247
Perlis RH
2010-11-01
Am J Psychiatry
www.ncbi.nlm.nih.gov/pubmed/21041247
Genome-wide association study of suicide attempts in mood disorder patients.
Suicide risk
3,117 European ancestry Bipolar disorder cases, 1,273 European ancestry Major depressive disorder cases
2,698 European ancestry Bipolar disorder cases, 1,649 Major depressive disorder cases
10p11.23
10
30201775
PRKCE
JCAD - RNU6-598P
ENSG00000165757
ENSG00000200887
null
86,281
97,794
rs2462021-C
rs2462021
0
2462021
intergenic_variant
1
NR
0.000008
5.09691
null
1.1755
null
Affymetrix [1922309] (imputed)
N
mental or behavioural disorder, attempted suicide
http://www.ebi.ac.uk/efo/EFO_0000677, http://www.ebi.ac.uk/efo/EFO_0004321
GCST000854
Genome-wide genotyping array
2011-04-06
21,355,061
Boger CA
2011-02-25
J Am Soc Nephrol
www.ncbi.nlm.nih.gov/pubmed/21355061
CUBN is a gene locus for albuminuria.
Urinary albumin excretion
31,580 European ancestry individuals
31,277 European ancestry individuals
10p13
10
16877053
RSU1, CUBN
CUBN
null
null
ENSG00000107611
null
null
rs1801239-T
rs1801239
0
1801239
missense_variant
0
0.90
0
11
(UACR)
0.0835
[NR] unit decrease CKDGen
Affymetrix, Illumina [~ 2500000] (imputed)
N
albuminuria
http://www.ebi.ac.uk/efo/EFO_0004285
GCST000988
Genome-wide genotyping array
2011-04-04
21,326,295
Jin Y
2011-02-17
J Invest Dermatol
www.ncbi.nlm.nih.gov/pubmed/21326295
Genome-wide analysis identifies a quantitative trait locus in the MHC class II region associated with generalized vitiligo age of onset.
Vitiligo
1,339 European ancestry cases
677 European ancestry cases
6p21.32
6
32377506
BTNL2, C6orf10
TSBP1-AS1
null
null
ENSG00000225914
null
null
rs7758128-A
rs7758128
0
7758128
intron_variant
0
0.06
0
10.09691
null
null
null
Illumina [520460]
N
Vitiligo
http://www.ebi.ac.uk/efo/EFO_0004208
GCST000981
Genome-wide genotyping array
2008-09-15
18,262,040
Sandhu MS
2008-02-09
Lancet
www.ncbi.nlm.nih.gov/pubmed/18262040
LDL-cholesterol concentrations: a genome-wide association study.
LDL cholesterol
11,685 European ancestry individuals
Up to 4,979 European ancestry individuals
1p13.3
1
109279544
CELSR2, PSRC1
CELSR2 - PSRC1
ENSG00000143126
ENSG00000134222
null
3,793
1
rs599839-G
rs599839
0
599839
intergenic_variant
1
0.19
0
33
null
0.16
[0.14-0.18] mmol/L decrease
Affymetrix, Illumina [up to 461986]
N
low density lipoprotein cholesterol measurement
http://www.ebi.ac.uk/efo/EFO_0004611
GCST000151
Genome-wide genotyping array
2008-09-15
18,262,040
Sandhu MS
2008-02-09
Lancet
www.ncbi.nlm.nih.gov/pubmed/18262040
LDL-cholesterol concentrations: a genome-wide association study.
LDL cholesterol
11,685 European ancestry individuals
Up to 4,979 European ancestry individuals
19q13.32
19
44919689
APOC1
APOC1
null
null
ENSG00000130208
null
null
rs4420638-G
rs4420638
0
4420638
intergenic_variant
0
0.18
0
20
null
0.06
[0.04-0.08] mmol/L increase
Affymetrix, Illumina [up to 461986]
N
low density lipoprotein cholesterol measurement
http://www.ebi.ac.uk/efo/EFO_0004611
GCST000151
Genome-wide genotyping array
2008-09-15
18,262,040
Sandhu MS
2008-02-09
Lancet
www.ncbi.nlm.nih.gov/pubmed/18262040
LDL-cholesterol concentrations: a genome-wide association study.
LDL cholesterol
11,685 European ancestry individuals
Up to 4,979 European ancestry individuals
2p24.1
2
21065449
APOB
APOB - TDRD15
ENSG00000084674
ENSG00000218819
null
21,376
58,519
rs562338-T
rs562338
0
562338
intron_variant
1
0.20
0
9
null
0.04
[0.02-0.06] mmol/L decrease
Affymetrix, Illumina [up to 461986]
N
low density lipoprotein cholesterol measurement
http://www.ebi.ac.uk/efo/EFO_0004611
GCST000151
Genome-wide genotyping array
2008-09-12
18,245,381
Uda M
2008-02-05
Proc Natl Acad Sci U S A
www.ncbi.nlm.nih.gov/pubmed/18245381
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.
Fetal hemoglobin levels
4,305 European ancestry individuals
521 European ancestry individuals
11p15.4
11
5285279
HBB
HBE1, HBG2
null
null
ENSG00000213931, ENSG00000196565
null
null
rs4910742-A
rs4910742
0
4910742
intron_variant
0
0.93
0
20.69897
null
0.58
[NR] unit decrease
Affymetrix [362129]
N
fetal hemoglobin measurement
http://www.ebi.ac.uk/efo/EFO_0004576
GCST000150
Genome-wide genotyping array
2008-09-12
18,245,381
Uda M
2008-02-05
Proc Natl Acad Sci U S A
www.ncbi.nlm.nih.gov/pubmed/18245381
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.
Fetal hemoglobin levels
4,305 European ancestry individuals
521 European ancestry individuals
2p16.1
2
60493111
BCL11A
BCL11A
null
null
ENSG00000119866
null
null
rs11886868-T
rs11886868
0
11886868
intron_variant
0
0.80
0
34.154902
null
0.48
[NR] unit decrease
Affymetrix [362129]
N
fetal hemoglobin measurement
http://www.ebi.ac.uk/efo/EFO_0004576
GCST000150
Genome-wide genotyping array
2008-09-16
18,239,089
Kong A
2008-02-02
Science
www.ncbi.nlm.nih.gov/pubmed/18239089
Sequence variants in the RNF212 gene associate with genome-wide recombination rate.
Recombination rate (males)
1,887 male individuals
1,248 male individuals
4p16.3
4
1101493
RNF212, SPON2
RNF212
null
null
ENSG00000178222
null
null
rs3796619-T
rs3796619
0
3796619
non_coding_transcript_exon_variant
0
0.33 (men and women combined)
0
23.522879
null
70.7
[57.1-84.3] cM decrease
Illumina [309241]
N
recombination rate
http://www.ebi.ac.uk/efo/EFO_0004863
GCST000148
Genome-wide genotyping array
2008-09-17
18,239,089
Kong A
2008-02-02
Science
www.ncbi.nlm.nih.gov/pubmed/18239089
Sequence variants in the RNF212 gene associate with genome-wide recombination rate.
Recombination rate (females)
1,702 female individuals
1,663 female individuals
4p16.3
4
1084399
RNF212, SPON2
RNF212
null
null
ENSG00000178222
null
null
rs1670533-C
rs1670533
0
1670533
intron_variant
0
0.23 (men and women combined)
0
11.69897
null
88.2
[63.7-112.7] cM increase
Illumina [309241]
N
recombination rate
http://www.ebi.ac.uk/efo/EFO_0004863
GCST000149
Genome-wide genotyping array
2010-12-01
20,971,583
Ojwang JO
2010-10-22
J Hand Surg Am
www.ncbi.nlm.nih.gov/pubmed/20971583
Genome-wide association scan of Dupuytren's disease.
Dupuytren's disease
37 European ancestry cases, 36 European ancestry controls
NA
1q41
1
221443734
LOC100132626
LINC02817 - DUSP10
ENSG00000234754
ENSG00000143507
null
107,245
256,935
rs12032381-C
rs12032381
0
12032381
intergenic_variant
1
0.083
0.000006
5.221849
null
6.22
[2.37-16.31]
Illumina [251837]
N
Dupuytren Contracture
http://www.ebi.ac.uk/efo/EFO_0004229
GCST000841
Genome-wide genotyping array
2010-10-17
20,864,672
Waterworth DM
2010-09-23
Arterioscler Thromb Vasc Biol
www.ncbi.nlm.nih.gov/pubmed/20864672
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
Triglycerides
up to 17,723 European ancestry individuals
up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals
2p23.3
2
27525757
GCKR
GCKR - SPATA31H1
ENSG00000084734
ENSG00000221843
null
2,069
11,629
rs1260333-C
rs1260333
0
1260333
intergenic_variant
1
0.55
0
18.69897
null
0.05
[0.04-0.06] unit decrease
Affymetrix, Illumina, Perlegen [2155369] (imputed)
N
triglyceride measurement
http://www.ebi.ac.uk/efo/EFO_0004530
GCST000809
Genome-wide genotyping array
2010-10-17
20,864,672
Waterworth DM
2010-09-23
Arterioscler Thromb Vasc Biol
www.ncbi.nlm.nih.gov/pubmed/20864672
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
Triglycerides
up to 17,723 European ancestry individuals
up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals
2p24.1
2
20981153
APOB
LINC02850 - APOB
ENSG00000236436
ENSG00000084674
null
119,492
20,276
rs6544366-T
rs6544366
0
6544366
intergenic_variant
1
0.22
0
6.69897
null
0.04
[0.03-0.05] unit decrease
Affymetrix, Illumina, Perlegen [2155369] (imputed)
N
triglyceride measurement
http://www.ebi.ac.uk/efo/EFO_0004530
GCST000809
Genome-wide genotyping array
2010-10-17
20,864,672
Waterworth DM
2010-09-23
Arterioscler Thromb Vasc Biol
www.ncbi.nlm.nih.gov/pubmed/20864672
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
Triglycerides
up to 17,723 European ancestry individuals
up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals
8q24.13
8
125478730
TRIB1
TRIB1AL
null
null
ENSG00000253111
null
null
rs2954029-T
rs2954029
0
2954029
intron_variant
0
0.46
0
10.69897
null
0.04
[0.03-0.05] unit decrease
Affymetrix, Illumina, Perlegen [2155369] (imputed)
N
triglyceride measurement
http://www.ebi.ac.uk/efo/EFO_0004530
GCST000809
Genome-wide genotyping array
2010-10-17
20,864,672
Waterworth DM
2010-09-23
Arterioscler Thromb Vasc Biol
www.ncbi.nlm.nih.gov/pubmed/20864672
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
Triglycerides
up to 17,723 European ancestry individuals
up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals
19p13.11
19
19678719
CILP2, ZNF101
ZNF101
null
null
ENSG00000181896
null
null
rs2304130-G
rs2304130
0
2304130
splice_region_variant
0
0.09
0
7.39794
null
0.07
[0.04-0.10] unit decrease
Affymetrix, Illumina, Perlegen [2155369] (imputed)
N
triglyceride measurement
http://www.ebi.ac.uk/efo/EFO_0004530
GCST000809
Genome-wide genotyping array
2010-10-17
20,864,672
Waterworth DM
2010-09-23
Arterioscler Thromb Vasc Biol
www.ncbi.nlm.nih.gov/pubmed/20864672
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
Triglycerides
up to 17,723 European ancestry individuals
up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals
5q11.2
5
56558326
C5orf35
C5orf67
null
null
ENSG00000225940
null
null
rs6867983-T
rs6867983
0
6867983
intron_variant
0
0.12
0.000003
5.522879
null
0.02
[0.01-0.03] unit increase
Affymetrix, Illumina, Perlegen [2155369] (imputed)
N
triglyceride measurement
http://www.ebi.ac.uk/efo/EFO_0004530
GCST000809
Genome-wide genotyping array
2010-10-17
20,864,672
Waterworth DM
2010-09-23
Arterioscler Thromb Vasc Biol
www.ncbi.nlm.nih.gov/pubmed/20864672
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
Triglycerides
up to 17,723 European ancestry individuals
up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals
1p31.3
1
62531167
DOCK7, ANGPTL3
DOCK7
null
null
ENSG00000116641
null
null
rs1168013-G
rs1168013
0
1168013
intron_variant
0
0.65
0
7.221849
null
0.04
[0.03-0.05] unit increase
Affymetrix, Illumina, Perlegen [2155369] (imputed)
N
triglyceride measurement
http://www.ebi.ac.uk/efo/EFO_0004530
GCST000809
Genome-wide genotyping array
2010-10-17
20,864,672
Waterworth DM
2010-09-23
Arterioscler Thromb Vasc Biol
www.ncbi.nlm.nih.gov/pubmed/20864672
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
Triglycerides
up to 17,723 European ancestry individuals
up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals
8p21.3
8
19970337
LPL
LPL - RPL30P9
ENSG00000175445
ENSG00000242709
null
3,070
143,006
rs10105606-C
rs10105606
0
10105606
intergenic_variant
1
0.68
0
25.39794
null
0.07
[0.06-0.08] increase
Affymetrix, Illumina, Perlegen [2155369] (imputed)
N
triglyceride measurement
http://www.ebi.ac.uk/efo/EFO_0004530
GCST000809
Genome-wide genotyping array
2010-10-17
20,864,672
Waterworth DM
2010-09-23
Arterioscler Thromb Vasc Biol
www.ncbi.nlm.nih.gov/pubmed/20864672
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
Triglycerides
up to 17,723 European ancestry individuals
up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals
4q22.1
4
87109109
AFF1
AFF1
null
null
ENSG00000172493
null
null
rs442177-A
rs442177
0
442177
intron_variant
0
0.50
0
9.522879
null
0.02
[0.01-0.03] unit increase
Affymetrix, Illumina, Perlegen [2155369] (imputed)
N
triglyceride measurement
http://www.ebi.ac.uk/efo/EFO_0004530
GCST000809
Genome-wide genotyping array
2010-10-17
20,864,672
Waterworth DM
2010-09-23
Arterioscler Thromb Vasc Biol
www.ncbi.nlm.nih.gov/pubmed/20864672
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
Triglycerides
up to 17,723 European ancestry individuals
up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals
11q12.2
11
61803876
FADS1
FADS2, FADS1
null
null
ENSG00000134824, ENSG00000149485
null
null
rs174548-G
rs174548
0
174548
intron_variant
0
0.17
0
13.30103
null
0.03
[0.02-0.04] unit increase
Affymetrix, Illumina, Perlegen [2155369] (imputed)
N
triglyceride measurement
http://www.ebi.ac.uk/efo/EFO_0004530
GCST000809
Genome-wide genotyping array
2010-10-17
20,864,672
Waterworth DM
2010-09-23
Arterioscler Thromb Vasc Biol
www.ncbi.nlm.nih.gov/pubmed/20864672
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
Triglycerides
up to 17,723 European ancestry individuals
up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals
7q11.23
7
73442100
TBL2, MLXIPL, BAZ1B, BCL7B
BAZ1B
null
null
ENSG00000009954
null
null
rs1178979-A
rs1178979
0
1178979
3_prime_UTR_variant
0
0.80
0
11.69897
null
0.05
[0.03-0.07] unit increase
Affymetrix, Illumina, Perlegen [2155369] (imputed)
N
triglyceride measurement
http://www.ebi.ac.uk/efo/EFO_0004530
GCST000809
Genome-wide genotyping array
2010-10-17
20,864,672
Waterworth DM
2010-09-23
Arterioscler Thromb Vasc Biol
www.ncbi.nlm.nih.gov/pubmed/20864672
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
Triglycerides
up to 17,723 European ancestry individuals
up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals
11q23.3
11
116714271
ZNF259, APOA1, APOC3, APOA4, APOA5, BUD13
LINC02702 - BUD13
ENSG00000237937
ENSG00000137656
null
55,976
33,899
rs4938303-T
rs4938303
0
4938303
intergenic_variant
1
0.75
0
20.39794
null
0.07
[0.06-0.08] unit decrease
Affymetrix, Illumina, Perlegen [2155369] (imputed)
N
triglyceride measurement
http://www.ebi.ac.uk/efo/EFO_0004530
GCST000809
Genome-wide genotyping array
2010-10-17
20,864,672
Waterworth DM
2010-09-23
Arterioscler Thromb Vasc Biol
www.ncbi.nlm.nih.gov/pubmed/20864672
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
LDL cholesterol
up to 17,723 European ancestry individuals
up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals
1p13.3
1
109275216
CELSR2
CELSR2
null
null
ENSG00000143126
null
null
rs660240-A
rs660240
0
660240
3_prime_UTR_variant
0
0.21
0
26
null
0.04
[0.03-0.05] unit decrease
Affymetrix, Illumina, Perlegen [2155369] (imputed)
N
low density lipoprotein cholesterol measurement
http://www.ebi.ac.uk/efo/EFO_0004611
GCST000807
Genome-wide genotyping array
2010-10-17
20,864,672
Waterworth DM
2010-09-23
Arterioscler Thromb Vasc Biol
www.ncbi.nlm.nih.gov/pubmed/20864672
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
LDL cholesterol
up to 17,723 European ancestry individuals
up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals
1p32.3
1
55030366
PCSK9
BSND - PCSK9
ENSG00000162399
ENSG00000169174
null
13,194
9,079
rs11206510-T
rs11206510
0
11206510
intergenic_variant
1
0.77
0
10
null
0.03
[0.02-0.04] unit increase
Affymetrix, Illumina, Perlegen [2155369] (imputed)
N
low density lipoprotein cholesterol measurement
http://www.ebi.ac.uk/efo/EFO_0004611
GCST000807
Genome-wide genotyping array
2010-10-17
20,864,672
Waterworth DM
2010-09-23
Arterioscler Thromb Vasc Biol
www.ncbi.nlm.nih.gov/pubmed/20864672
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
LDL cholesterol
up to 17,723 European ancestry individuals
up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals
2p24.1
2
21063185
APOB
APOB - TDRD15
ENSG00000084674
ENSG00000218819
null
19,112
60,783
rs515135-A
rs515135
0
515135
intron_variant
1
0.19
0
19.69897
null
0.04
[0.03-0.05] unit decrease
Affymetrix, Illumina, Perlegen [2155369] (imputed)
N
low density lipoprotein cholesterol measurement
http://www.ebi.ac.uk/efo/EFO_0004611
GCST000807
Genome-wide genotyping array
2010-10-17
20,864,672
Waterworth DM
2010-09-23
Arterioscler Thromb Vasc Biol
www.ncbi.nlm.nih.gov/pubmed/20864672
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
LDL cholesterol
up to 17,723 European ancestry individuals
up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals
5q13.3
5
75360714
HMGCR
CERT1, HMGCR
null
null
ENSG00000113163, ENSG00000113161
null
null
rs12916-T
rs12916
0
12916
3_prime_UTR_variant
0
0.62
0
11
null
0.02
[0.01-0.03] unit decrease
Affymetrix, Illumina, Perlegen [2155369] (imputed)
N
low density lipoprotein cholesterol measurement
http://www.ebi.ac.uk/efo/EFO_0004611
GCST000807
Genome-wide genotyping array
2010-10-17
20,864,672
Waterworth DM
2010-09-23
Arterioscler Thromb Vasc Biol
www.ncbi.nlm.nih.gov/pubmed/20864672
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
LDL cholesterol
up to 17,723 European ancestry individuals
up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals
19q13.32
19
44919689
APOC2, APOE, APOC4, APOC1
APOC1
null
null
ENSG00000130208
null
null
rs4420638-G
rs4420638
0
4420638
intergenic_variant
0
0.18
0
39.69897
null
0.06
[0.05-0.07] unit increase
Affymetrix, Illumina, Perlegen [2155369] (imputed)
N
low density lipoprotein cholesterol measurement
http://www.ebi.ac.uk/efo/EFO_0004611
GCST000807
Genome-wide genotyping array
2010-10-17
20,864,672
Waterworth DM
2010-09-23
Arterioscler Thromb Vasc Biol
www.ncbi.nlm.nih.gov/pubmed/20864672
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
LDL cholesterol
up to 17,723 European ancestry individuals
up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals
8q24.13
8
125469835
TRIB1
TRIB1AL
null
null
ENSG00000253111
null
null
rs2954021-G
rs2954021
0
2954021
intron_variant
0
0.50
0
7
null
0.02
[0.01-0.03] unit decrease
Affymetrix, Illumina, Perlegen [2155369] (imputed)
N
low density lipoprotein cholesterol measurement
http://www.ebi.ac.uk/efo/EFO_0004611
GCST000807
Genome-wide genotyping array
2010-10-17
20,864,672
Waterworth DM
2010-09-23
Arterioscler Thromb Vasc Biol
www.ncbi.nlm.nih.gov/pubmed/20864672
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
LDL cholesterol
up to 17,723 European ancestry individuals
up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals
11q23.3
11
116736721
ZNF259, APOA1, APOC3, APOA4, APOA5, BUD13
LINC02702 - BUD13
ENSG00000237937
ENSG00000137656
null
78,426
11,449
rs1558861-T
rs1558861
0
1558861
intron_variant
1
0.94
0.000002
5.69897
null
0.03
[0.02-0.04] unit decrease
Affymetrix, Illumina, Perlegen [2155369] (imputed)
N
low density lipoprotein cholesterol measurement
http://www.ebi.ac.uk/efo/EFO_0004611
GCST000807
Genome-wide genotyping array
2010-10-17
20,864,672
Waterworth DM
2010-09-23
Arterioscler Thromb Vasc Biol
www.ncbi.nlm.nih.gov/pubmed/20864672
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
LDL cholesterol
up to 17,723 European ancestry individuals
up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals
19p13.2
19
11127797
LDLR
LDLR
null
null
ENSG00000130164
null
null
rs2738459-C
rs2738459
0
2738459
intron_variant
0
0.48
0.000007
5.154902
null
0.02
[0.01-0.03] unit decrease
Affymetrix, Illumina, Perlegen [2155369] (imputed)
N
low density lipoprotein cholesterol measurement
http://www.ebi.ac.uk/efo/EFO_0004611
GCST000807
Genome-wide genotyping array
2010-10-17
20,864,672
Waterworth DM
2010-09-23
Arterioscler Thromb Vasc Biol
www.ncbi.nlm.nih.gov/pubmed/20864672
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
LDL cholesterol
up to 17,723 European ancestry individuals
up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals
8p23.1
8
9327636
PPP1R3B
PPP1R3B-DT
null
null
ENSG00000248538
null
null
rs2126259-A
rs2126259
0
2126259
intron_variant
0
0.13
0
11.154902
null
0.02
[0.01-0.03] unit decrease
Affymetrix, Illumina, Perlegen [2155369] (imputed)
N
low density lipoprotein cholesterol measurement
http://www.ebi.ac.uk/efo/EFO_0004611
GCST000807
Genome-wide genotyping array
2010-10-17
20,864,672
Waterworth DM
2010-09-23
Arterioscler Thromb Vasc Biol
www.ncbi.nlm.nih.gov/pubmed/20864672
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
LDL cholesterol
up to 17,723 European ancestry individuals
up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals
19p13.11
19
19296909
SF4, CILP2
SUGP1
null
null
ENSG00000105705
null
null
rs10401969-T
rs10401969
0
10401969
intron_variant
0
0.91
0
11
null
0.05
[0.04-0.06] unit increase
Affymetrix, Illumina, Perlegen [2155369] (imputed)
N
low density lipoprotein cholesterol measurement
http://www.ebi.ac.uk/efo/EFO_0004611
GCST000807
Genome-wide genotyping array
2010-10-17
20,864,672
Waterworth DM
2010-09-23
Arterioscler Thromb Vasc Biol
www.ncbi.nlm.nih.gov/pubmed/20864672
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
LDL cholesterol
up to 17,723 European ancestry individuals
up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals
6p22.3
6
16196963
MYLIP, GMPR
MRPL42P2 - RNU6-1114P
ENSG00000216364
ENSG00000251831
null
24,932
8,051
rs2142672-C
rs2142672
0
2142672
intron_variant
1
0.74
0
7.69897
null
0.01
[0.007-0.015] unit increase
Affymetrix, Illumina, Perlegen [2155369] (imputed)
N
low density lipoprotein cholesterol measurement
http://www.ebi.ac.uk/efo/EFO_0004611
GCST000807
Genome-wide genotyping array
2010-10-17
20,864,672
Waterworth DM
2010-09-23
Arterioscler Thromb Vasc Biol
www.ncbi.nlm.nih.gov/pubmed/20864672
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
HDL cholesterol
up to 17,723 European ancestry individuals
up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals
15q21.3
15
58434545
LIPC
ALDH1A2, LIPC
null
null
ENSG00000128918, ENSG00000166035
null
null
rs261334-G
rs261334
0
261334
intron_variant
0
0.20
0
21.30103
null
0.03
[0.02-0.04] unit increase
Affymetrix, Illumina, Perlegen [2155369] (imputed)
N
high density lipoprotein cholesterol measurement
http://www.ebi.ac.uk/efo/EFO_0004612
GCST000805
Genome-wide genotyping array
2010-10-17
20,864,672
Waterworth DM
2010-09-23
Arterioscler Thromb Vasc Biol
www.ncbi.nlm.nih.gov/pubmed/20864672
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
HDL cholesterol
up to 17,723 European ancestry individuals
up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals
18q21.1
18
49655298
LIPG
SMUG1P1 - ACAA2
ENSG00000267444
ENSG00000167315
null
4,138
126,866
rs2156552-T
rs2156552
0
2156552
intron_variant
1
0.81
0
11.69897
null
0.03
[0.02-0.04] unit increase
Affymetrix, Illumina, Perlegen [2155369] (imputed)
N
high density lipoprotein cholesterol measurement
http://www.ebi.ac.uk/efo/EFO_0004612
GCST000805
Genome-wide genotyping array
2010-10-17
20,864,672
Waterworth DM
2010-09-23
Arterioscler Thromb Vasc Biol
www.ncbi.nlm.nih.gov/pubmed/20864672
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
HDL cholesterol
up to 17,723 European ancestry individuals
up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals
1q42.13
1
230169242
GALNT2
GALNT2
null
null
ENSG00000143641
null
null
rs10489615-G
rs10489615
0
10489615
intron_variant
0
0.60
0
8.39794
null
0.02
[0.01-0.03] unit increase
Affymetrix, Illumina, Perlegen [2155369] (imputed)
N
high density lipoprotein cholesterol measurement
http://www.ebi.ac.uk/efo/EFO_0004612
GCST000805
Genome-wide genotyping array
2010-10-17
20,864,672
Waterworth DM
2010-09-23
Arterioscler Thromb Vasc Biol
www.ncbi.nlm.nih.gov/pubmed/20864672
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
HDL cholesterol
up to 17,723 European ancestry individuals
up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals
11q23.3
11
116778201
ZNF259, APOA1, APOC3, APOA4, APOA5
ZPR1
null
null
ENSG00000109917
null
null
rs964184-G
rs964184
0
964184
3_prime_UTR_variant
0
0.12
0
10.69897
null
0.03
[0.02-0.04] unit decrease
Affymetrix, Illumina, Perlegen [2155369] (imputed)
N
high density lipoprotein cholesterol measurement
http://www.ebi.ac.uk/efo/EFO_0004612
GCST000805
Genome-wide genotyping array
2010-10-17
20,864,672
Waterworth DM
2010-09-23
Arterioscler Thromb Vasc Biol
www.ncbi.nlm.nih.gov/pubmed/20864672
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
HDL cholesterol
up to 17,723 European ancestry individuals
up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals
16q13
16
56951227
CETP
HERPUD1 - CETP
ENSG00000051108
ENSG00000087237
null
6,363
10,696
rs9989419-G
rs9989419
0
9989419
regulatory_region_variant
1
0.60
0
32
null
0.04
[0.03-0.05] unit increase
Affymetrix, Illumina, Perlegen [2155369] (imputed)
N
high density lipoprotein cholesterol measurement
http://www.ebi.ac.uk/efo/EFO_0004612
GCST000805
Genome-wide genotyping array
2010-10-17
20,864,672
Waterworth DM
2010-09-23
Arterioscler Thromb Vasc Biol
www.ncbi.nlm.nih.gov/pubmed/20864672
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
HDL cholesterol
up to 17,723 European ancestry individuals
up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals
2p24.1
2
20976028
APOB
LINC02850 - APOB
ENSG00000236436
ENSG00000084674
null
114,367
25,401
rs11902417-G
rs11902417
0
11902417
intergenic_variant
1
0.78
0
6.39794
null
0.02
[0.01-0.03] unit decrease
Affymetrix, Illumina, Perlegen [2155369] (imputed)
N
high density lipoprotein cholesterol measurement
http://www.ebi.ac.uk/efo/EFO_0004612
GCST000805
Genome-wide genotyping array
2010-10-17
20,864,672
Waterworth DM
2010-09-23
Arterioscler Thromb Vasc Biol
www.ncbi.nlm.nih.gov/pubmed/20864672
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
HDL cholesterol
up to 17,723 European ancestry individuals
up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals
11q12.2
11
61803876
FADS1
FADS2, FADS1
null
null
ENSG00000134824, ENSG00000149485
null
null
rs174548-G
rs174548
0
174548
intron_variant
0
0.17
0
12
null
0.01
[0.007-0.015] unit decrease
Affymetrix, Illumina, Perlegen [2155369] (imputed)
N
high density lipoprotein cholesterol measurement
http://www.ebi.ac.uk/efo/EFO_0004612
GCST000805
Genome-wide genotyping array
2010-10-17
20,864,672
Waterworth DM
2010-09-23
Arterioscler Thromb Vasc Biol
www.ncbi.nlm.nih.gov/pubmed/20864672
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
HDL cholesterol
up to 17,723 European ancestry individuals
up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals
8p21.3
8
19961817
LPL
LPL
null
null
ENSG00000175445
null
null
rs325-T
rs325
0
325
intron_variant
0
0.89
0
25.09691
null
0.05
[0.04-0.06] unit decrease
Affymetrix, Illumina, Perlegen [2155369] (imputed)
N
high density lipoprotein cholesterol measurement
http://www.ebi.ac.uk/efo/EFO_0004612
GCST000805
Genome-wide genotyping array
2010-10-17
20,864,672
Waterworth DM
2010-09-23
Arterioscler Thromb Vasc Biol
www.ncbi.nlm.nih.gov/pubmed/20864672
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
HDL cholesterol
up to 17,723 European ancestry individuals
up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals
9p22.3
9
15296036
TTC39B
TTC39B
null
null
ENSG00000155158
null
null
rs643531-C
rs643531
0
643531
intron_variant
0
0.07
0
8.154902
null
0.01
[0.009-0.017] unit decrease
Affymetrix, Illumina, Perlegen [2155369] (imputed)
N
high density lipoprotein cholesterol measurement
http://www.ebi.ac.uk/efo/EFO_0004612
GCST000805
Genome-wide genotyping array
2010-10-17
20,864,672
Waterworth DM
2010-09-23
Arterioscler Thromb Vasc Biol
www.ncbi.nlm.nih.gov/pubmed/20864672
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
HDL cholesterol
up to 17,723 European ancestry individuals
up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals
9q31.1
9
104885374
ABCA1
ABCA1
null
null
ENSG00000165029
null
null
rs3890182-G
rs3890182
0
3890182
intron_variant
0
0.88
0.000001
6.30103
null
0.02
[0.01-0.03] unit increase
Affymetrix, Illumina, Perlegen [2155369] (imputed)
N
high density lipoprotein cholesterol measurement
http://www.ebi.ac.uk/efo/EFO_0004612
GCST000805
Genome-wide genotyping array
2010-10-17
20,864,672
Waterworth DM
2010-09-23
Arterioscler Thromb Vasc Biol
www.ncbi.nlm.nih.gov/pubmed/20864672
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
HDL cholesterol
up to 17,723 European ancestry individuals
up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals
12q24.11
12
109403135
UBE3B, MVK, MMAB, MYO1H, KCTD10
MYO1H
null
null
ENSG00000174527
null
null
rs9943753-G
rs9943753
0
9943753
intron_variant
0
0.63
0.000003
5.522879
null
0.02
[0.01-0.03] unit increase
Affymetrix, Illumina, Perlegen [2155369] (imputed)
N
high density lipoprotein cholesterol measurement
http://www.ebi.ac.uk/efo/EFO_0004612
GCST000805
Genome-wide genotyping array
2010-10-17
20,864,672
Waterworth DM
2010-09-23
Arterioscler Thromb Vasc Biol
www.ncbi.nlm.nih.gov/pubmed/20864672
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
HDL cholesterol
up to 17,723 European ancestry individuals
up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals
16q22.1
16
67674994
GFOD2, LCAT
GFOD2
null
null
ENSG00000141098
null
null
rs12449157-G
rs12449157
0
12449157
3_prime_UTR_variant
0
0.17
0
6.69897
null
0.02
[0.01-0.03] unit increase
Affymetrix, Illumina, Perlegen [2155369] (imputed)
N
high density lipoprotein cholesterol measurement
http://www.ebi.ac.uk/efo/EFO_0004612
GCST000805
Genome-wide genotyping array
2013-04-27
23,358,156
Benyamin B
2013-01-29
Mol Psychiatry
www.ncbi.nlm.nih.gov/pubmed/23358156
Childhood intelligence is heritable, highly polygenic and associated with FNBP1L.
Intelligence (childhood)
12,441 European ancestry children
5,548 European ancestry children
4q32.1
4
159361566
NR
RAPGEF2 - LINC02233
ENSG00000109756
ENSG00000250488
null
1,392
304,267
rs6536413-A
rs6536413
0
6536413
intron_variant
1
0.13
0.000006
5.221849
null
0.075
[0.042-0.108] unit decrease
Affymetrix, Illumina [138093] (imputed)
N
intelligence
http://www.ebi.ac.uk/efo/EFO_0004337
GCST001837
Genome-wide genotyping array
2013-04-27
23,358,156
Benyamin B
2013-01-29
Mol Psychiatry
www.ncbi.nlm.nih.gov/pubmed/23358156
Childhood intelligence is heritable, highly polygenic and associated with FNBP1L.
Intelligence (childhood)
12,441 European ancestry children
5,548 European ancestry children
20p12.1
20
13715482
NR
ESF1
null
null
ENSG00000089048
null
null
rs6042314-C
rs6042314
0
6042314
intron_variant
0
0.748
0.000007
5.154902
null
0.058
[0.033-0.083] unit increase
Affymetrix, Illumina [138093] (imputed)
N
intelligence
http://www.ebi.ac.uk/efo/EFO_0004337
GCST001837
Genome-wide genotyping array
2013-04-27
23,358,156
Benyamin B
2013-01-29
Mol Psychiatry
www.ncbi.nlm.nih.gov/pubmed/23358156
Childhood intelligence is heritable, highly polygenic and associated with FNBP1L.
Intelligence (childhood)
12,441 European ancestry children
5,548 European ancestry children
12p13.32
12
5022387
NR
KCNA1 - KCNA5
ENSG00000111262
ENSG00000130037
null
104,131
21,492
rs16932667-T
rs16932667
0
16932667
intron_variant
1
0.66
0.000008
5.09691
null
0.052
[0.028-0.076] unit increase
Affymetrix, Illumina [138093] (imputed)
N
intelligence
http://www.ebi.ac.uk/efo/EFO_0004337
GCST001837
Genome-wide genotyping array
2013-04-27
23,358,156
Benyamin B
2013-01-29
Mol Psychiatry
www.ncbi.nlm.nih.gov/pubmed/23358156
Childhood intelligence is heritable, highly polygenic and associated with FNBP1L.
Intelligence (childhood)
12,441 European ancestry children
5,548 European ancestry children
1q32.3
1
212218821
NR
LINC02608
null
null
ENSG00000226251
null
null
rs6540731-A
rs6540731
0
6540731
intron_variant
0
0.415
0.000009
5.045757
null
0.05
[0.028-0.072] unit decrease
Affymetrix, Illumina [138093] (imputed)
N
intelligence
http://www.ebi.ac.uk/efo/EFO_0004337
GCST001837
Genome-wide genotyping array
2013-04-27
23,358,156
Benyamin B
2013-01-29
Mol Psychiatry
www.ncbi.nlm.nih.gov/pubmed/23358156
Childhood intelligence is heritable, highly polygenic and associated with FNBP1L.
Intelligence (childhood)
12,441 European ancestry children
5,548 European ancestry children
2p21
2
43908175
NR
LRPPRC
null
null
ENSG00000138095
null
null
rs13387221-A
rs13387221
0
13387221
intron_variant
0
0.187
0.000009
5.045757
null
0.064
[0.035-0.093] unit increase
Affymetrix, Illumina [138093] (imputed)
N
intelligence
http://www.ebi.ac.uk/efo/EFO_0004337
GCST001837
Genome-wide genotyping array
2013-04-27
23,358,156
Benyamin B
2013-01-29
Mol Psychiatry
www.ncbi.nlm.nih.gov/pubmed/23358156
Childhood intelligence is heritable, highly polygenic and associated with FNBP1L.
Intelligence (childhood)
12,441 European ancestry children
5,548 European ancestry children
8q23.1
8
106832219
NR
ABRA - HMGB1P46
ENSG00000174429
ENSG00000254146
null
61,975
340,981
rs2981205-T
rs2981205
0
2981205
intergenic_variant
1
0.226
0.000005
5.30103
null
0.06
[0.035-0.085] unit decrease
Affymetrix, Illumina [138093] (imputed)
N
intelligence
http://www.ebi.ac.uk/efo/EFO_0004337
GCST001837
Genome-wide genotyping array
2010-12-16
21,060,863
Ikram MK
2010-10-28
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/21060863
Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.
Retinal vascular caliber
15,358 European ancestry individuals
6,652 European ancestry individuals
19q13.33
19
48725015
FUT2, IZUMO1, FUT1, CA11, FGF21, FLJ36070, RASIP1
RASIP1
null
null
ENSG00000105538
null
null
rs2287921-T
rs2287921
0
2287921
intron_variant
0
0.47
0
24.69897
(Retinal venular caliber)
2.1
[1.71-2.49] um decrease
Affymetrix, Illumina [2194468] (imputed)
N
eye measurement
http://www.ebi.ac.uk/efo/EFO_0004731
GCST000847
Genome-wide genotyping array
2010-12-16
21,060,863
Ikram MK
2010-10-28
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/21060863
Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.
Retinal vascular caliber
15,358 European ancestry individuals
6,652 European ancestry individuals
6q24.2
6
142226962
VTA1, NMBR
VTA1 - LINC02919
ENSG00000009844
ENSG00000237494
null
2,277
24,882
rs225717-C
rs225717
0
225717
intergenic_variant
1
0.23
0
16
(Retinal venular caliber)
1.9
[1.45-2.35] um decrease
Affymetrix, Illumina [2194468] (imputed)
N
eye measurement
http://www.ebi.ac.uk/efo/EFO_0004731
GCST000847
Genome-wide genotyping array
2010-12-16
21,060,863
Ikram MK
2010-10-28
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/21060863
Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.
Retinal vascular caliber
15,358 European ancestry individuals
6,652 European ancestry individuals
12q24.12
12
111472415
SH2B3, ATXN2, PTPN11
ATXN2
null
null
ENSG00000204842
null
null
rs10774625-A
rs10774625
0
10774625
intron_variant
0
0.48
0
12.69897
(Retinal venular caliber)
1.5
[1.11-1.89] um increase
Affymetrix, Illumina [2194468] (imputed)
N
eye measurement
http://www.ebi.ac.uk/efo/EFO_0004731
GCST000847
Genome-wide genotyping array
2010-12-16
21,060,863
Ikram MK
2010-10-28
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/21060863
Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.
Retinal vascular caliber
15,358 European ancestry individuals
6,652 European ancestry individuals
5q14.3
5
88551768
MEF2C
MIR9-2HG
null
null
ENSG00000245526
null
null
rs17421627-G
rs17421627
0
17421627
intron_variant
0
0.08
0
15.154902
(Retinal venular caliber)
3
[2.27-3.73] um increase
Affymetrix, Illumina [2194468] (imputed)
N
eye measurement
http://www.ebi.ac.uk/efo/EFO_0004731
GCST000847
Genome-wide genotyping array
2010-12-16
21,060,863
Ikram MK
2010-10-28
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/21060863
Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.
Retinal vascular caliber
15,358 European ancestry individuals
6,652 European ancestry individuals
8p23.1
8
11246602
XKR6, SOX7, GATA4, MTMR9, PINX1
LINC00529
null
null
ENSG00000236827
null
null
rs7824557-G
rs7824557
0
7824557
intron_variant
0
0.39
0
6.39794
(Retinal venular caliber)
1
[0.61-1.39] um increase
Affymetrix, Illumina [2194468] (imputed)
N
eye measurement
http://www.ebi.ac.uk/efo/EFO_0004731
GCST000847
Genome-wide genotyping array
2011-04-11
21,423,719
Speliotes EK
2011-03-10
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/21423719
Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits.
Nonalcoholic fatty liver disease
880 Amish individuals, 6,296 European ancestry individuals
592 European ancestry cases, 1,405 European ancestry controls
22q13.31
22
43928847
PNPLA3
PNPLA3
null
null
ENSG00000100344
null
null
rs738409-G
rs738409
0
738409
missense_variant
0
0.23
0
33.39794
(GOLD)
0.26
[0.22-0.30] unit increase
Affymetrix, Illumina [~ 2400000] (imputed)
N
non-alcoholic fatty liver disease
http://www.ebi.ac.uk/efo/EFO_0003095
GCST001008
Genome-wide genotyping array
2011-04-07
21,408,207
Chung SA
2011-03-03
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/21408207
Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
Systemic lupus erythematosus
811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls
NA
6p21.33
6
32082981
TNXB
TNXB
null
null
ENSG00000168477
null
null
rs1150754-A
rs1150754
0
1150754
splice_region_variant
0
0.13
0
28.221849
(anti-dsDNA +)
2.21
[1.93-2.53]
Illumina [421318] (imputed)
N
systemic lupus erythematosus
http://purl.obolibrary.org/obo/MONDO_0007915
GCST000996
Genome-wide genotyping array
2011-04-07
21,408,207
Chung SA
2011-03-03
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/21408207
Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
Systemic lupus erythematosus
811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls
NA
2q32.2
2
191099907
STAT4
STAT4
null
null
ENSG00000138378
null
null
rs7574865-T
rs7574865
0
7574865
intron_variant
0
0.23
0
19.69897
(anti-dsDNA +)
1.77
[1.57-1.99]
Illumina [421318] (imputed)
N
systemic lupus erythematosus
http://purl.obolibrary.org/obo/MONDO_0007915
GCST000996
Genome-wide genotyping array
2011-04-07
21,408,207
Chung SA
2011-03-03
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/21408207
Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
Systemic lupus erythematosus
811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls
NA
7q32.1
7
128954129
IRF5
IRF5 - TNPO3
ENSG00000128604
ENSG00000064419
null
4,091
51
rs10488631-C
rs10488631
0
10488631
intergenic_variant
1
0.11
0
17.154902
(anti-dsDNA +)
1.92
[1.66-2.22]
Illumina [421318] (imputed)
N
systemic lupus erythematosus
http://purl.obolibrary.org/obo/MONDO_0007915
GCST000996
Genome-wide genotyping array
2011-04-07
21,408,207
Chung SA
2011-03-03
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/21408207
Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
Systemic lupus erythematosus
811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls
NA
1p32.3
1
53163913
SLC1A7
SLC1A7 - CPT2
ENSG00000162383
ENSG00000157184
null
21,275
32,879
rs6695567-?
rs6695567
0
6695567
intergenic_variant
1
0.57
0.000004
5.39794
(anti-dsDNA +)
1.32
[1.18-1.47]
Illumina [421318] (imputed)
N
systemic lupus erythematosus
http://purl.obolibrary.org/obo/MONDO_0007915
GCST000996
Genome-wide genotyping array
2011-04-07
21,408,207
Chung SA
2011-03-03
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/21408207
Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
Systemic lupus erythematosus
811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls
NA
3q26.32
3
177377284
intergenic
LINC00578
null
null
ENSG00000228221
null
null
rs12629106-?
rs12629106
0
12629106
regulatory_region_variant
0
0.81
0.000004
5.39794
(case-only)
1.56
[1.30-1.89]
Illumina [421318] (imputed)
N
systemic lupus erythematosus
http://purl.obolibrary.org/obo/MONDO_0007915
GCST000996
Genome-wide genotyping array
2011-04-07
21,408,207
Chung SA
2011-03-03
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/21408207
Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
Systemic lupus erythematosus
811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls
NA
2q32.2
2
191099907
STAT4
STAT4
null
null
ENSG00000138378
null
null
rs7574865-T
rs7574865
0
7574865
intron_variant
0
0.28
0.000008
5.09691
(case-only)
1.41
[1.21-1.63]
Illumina [421318] (imputed)
N
systemic lupus erythematosus
http://purl.obolibrary.org/obo/MONDO_0007915
GCST000996
Genome-wide genotyping array
2011-04-07
21,408,207
Chung SA
2011-03-03
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/21408207
Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
Systemic lupus erythematosus
811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls
NA
20p13
20
2537919
TMC2
TMC2
null
null
ENSG00000149488
null
null
rs6049839-T
rs6049839
0
6049839
intron_variant
0
0.40
0.000008
5.09691
(case-only)
1.37
[1.19-1.58]
Illumina [421318] (imputed)
N
systemic lupus erythematosus
http://purl.obolibrary.org/obo/MONDO_0007915
GCST000996
Genome-wide genotyping array
2011-04-07
21,408,207
Chung SA
2011-03-03
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/21408207
Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
Systemic lupus erythematosus
811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls
NA
8p23.1
8
11486464
BLK
FAM167A - BLK
ENSG00000154319
ENSG00000136573
null
10,556
430
rs2736340-T
rs2736340
0
2736340
intergenic_variant
1
0.23
0
6.522879
(anti-dsDNA +)
1.38
[1.23-1.56]
Illumina [421318] (imputed)
N
systemic lupus erythematosus
http://purl.obolibrary.org/obo/MONDO_0007915
GCST000996
Genome-wide genotyping array
2011-04-07
21,408,207
Chung SA
2011-03-03
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/21408207
Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
Systemic lupus erythematosus
811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls
NA
1q25.3
1
183207295
LAMC2
LAMC2
null
null
ENSG00000058085
null
null
rs525410-?
rs525410
0
525410
intron_variant
0
0.49
0.000001
6.221849
(anti-dsDNA +)
1.33
[1.19-1.47]
Illumina [421318] (imputed)
N
systemic lupus erythematosus
http://purl.obolibrary.org/obo/MONDO_0007915
GCST000996
Genome-wide genotyping array
2011-04-07
21,408,207
Chung SA
2011-03-03
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/21408207
Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
Systemic lupus erythematosus
811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls
NA
22q11.21
22
21585386
UBE2L3
UBE2L3
null
null
ENSG00000185651
null
null
rs5754217-T
rs5754217
0
5754217
intron_variant
0
0.19
0.000002
5.69897
(anti-dsDNA +)
1.38
[1.21-1.57]
Illumina [421318] (imputed)
N
systemic lupus erythematosus
http://purl.obolibrary.org/obo/MONDO_0007915
GCST000996
Genome-wide genotyping array
2011-04-07
21,408,207
Chung SA
2011-03-03
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/21408207
Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
Systemic lupus erythematosus
811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls
NA
1q31.1
1
189754493
intergenic
LINC01701
null
null
ENSG00000232212
null
null
rs10737562-?
rs10737562
0
10737562
intergenic_variant
0
0.50
0.000007
5.154902
(anti-dsDNA +)
1.3
[1.16-1.45]
Illumina [421318] (imputed)
N
systemic lupus erythematosus
http://purl.obolibrary.org/obo/MONDO_0007915
GCST000996
Genome-wide genotyping array
2011-04-07
21,408,207
Chung SA
2011-03-03
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/21408207
Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
Systemic lupus erythematosus
811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls
NA
7q32.1
7
128977412
IRF5
TNPO3
null
null
ENSG00000064419
null
null
rs12531711-G
rs12531711
0
12531711
intron_variant
0
0.11
0
8.221849
(anti-dsDNA -)
1.58
[1.36-1.83]
Illumina [421318] (imputed)
N
systemic lupus erythematosus
http://purl.obolibrary.org/obo/MONDO_0007915
GCST000996
Genome-wide genotyping array
2011-04-07
21,408,207
Chung SA
2011-03-03
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/21408207
Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
Systemic lupus erythematosus
811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls
NA
2q31.3
2
180649002
intergenic
CWC22 - SCHLAP1
ENSG00000163510
ENSG00000281131
null
641,705
43,007
rs918959-?
rs918959
0
918959
intron_variant
1
0.91
0.000002
5.69897
(anti-dsDNA -)
1.72
[1.39-2.17]
Illumina [421318] (imputed)
N
systemic lupus erythematosus
http://purl.obolibrary.org/obo/MONDO_0007915
GCST000996
Genome-wide genotyping array
2011-04-07
21,408,207
Chung SA
2011-03-03
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/21408207
Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
Systemic lupus erythematosus
811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls
NA
11q11
11
55368743
OR4A15
OR4A15
null
null
ENSG00000181958
null
null
rs7927370-?
rs7927370
0
7927370
missense_variant
0
0.94
0.000007
5.154902
(anti-dsDNA -)
1.92
[1.45-2.56]
Illumina [421318] (imputed)
N
systemic lupus erythematosus
http://purl.obolibrary.org/obo/MONDO_0007915
GCST000996
Genome-wide genotyping array
2011-04-07
21,408,207
Chung SA
2011-03-03
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/21408207
Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
Systemic lupus erythematosus
811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls
NA
6p21.32
6
32638107
HLA-DR3
HLA-DQA1
null
null
ENSG00000196735
null
null
rs2187668-A
rs2187668
0
2187668
intron_variant
0
0.12
0
27.221849
(anti-dsDNA +)
2.23
[1.94-2.57]
Illumina [421318] (imputed)
N
systemic lupus erythematosus
http://purl.obolibrary.org/obo/MONDO_0007915
GCST000996
Genome-wide genotyping array
2011-04-07
21,408,207
Chung SA
2011-03-03
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/21408207
Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
Systemic lupus erythematosus
811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls
NA
16p11.2
16
31301932
ITGAM
ITGAM
null
null
ENSG00000169896
null
null
rs9888739-T
rs9888739
0
9888739
intron_variant
0
0.13
0
15
(anti-dsDNA +)
1.8
[1.56-2.07]
Illumina [421318] (imputed)
N
systemic lupus erythematosus
http://purl.obolibrary.org/obo/MONDO_0007915
GCST000996
Genome-wide genotyping array
2011-04-07
21,408,207
Chung SA
2011-03-03
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/21408207
Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
Systemic lupus erythematosus
811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls
NA
4q25
4
108801970
COL25A1
RCC2P8 - COL25A1
ENSG00000250185
ENSG00000188517
null
12,191
6,755
rs4956211-A
rs4956211
0
4956211
intergenic_variant
1
0.35
0.000001
6
(anti-dsDNA +)
1.33
[1.19-1.48]
Illumina [421318] (imputed)
N
systemic lupus erythematosus
http://purl.obolibrary.org/obo/MONDO_0007915
GCST000996
Genome-wide genotyping array
2011-04-07
21,408,207
Chung SA
2011-03-03
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/21408207
Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
Systemic lupus erythematosus
811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls
NA
5q33.3
5
160452971
PTTG1
MIR3142HG
null
null
ENSG00000253522
null
null
rs2431697-?
rs2431697
0
2431697
intergenic_variant
0
0.56
0.000002
5.69897
(anti-dsDNA +)
1.32
[1.18-1.47]
Illumina [421318] (imputed)
N
systemic lupus erythematosus
http://purl.obolibrary.org/obo/MONDO_0007915
GCST000996
Genome-wide genotyping array
2011-04-07
21,408,207
Chung SA
2011-03-03
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/21408207
Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
Systemic lupus erythematosus
811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls
NA
11p15.5
11
589564
KIAA1542
PHRF1
null
null
ENSG00000070047
null
null
rs4963128-?
rs4963128
0
4963128
intron_variant
0
0.66
0.000004
5.39794
(anti-dsDNA +)
1.33
[1.18-1.49]
Illumina [421318] (imputed)
N
systemic lupus erythematosus
http://purl.obolibrary.org/obo/MONDO_0007915
GCST000996
Genome-wide genotyping array
2011-04-07
21,408,207
Chung SA
2011-03-03
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/21408207
Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
Systemic lupus erythematosus
811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls
NA
6p21.32
6
32757416
HLA-DQA2
HLA-DQB2
null
null
ENSG00000232629
null
null
rs2301271-T
rs2301271
0
2301271
intron_variant
0
0.40
0
11.69897
(anti-dsDNA -)
1.47
[1.32-1.63]
Illumina [421318] (imputed)
N
systemic lupus erythematosus
http://purl.obolibrary.org/obo/MONDO_0007915
GCST000996
Genome-wide genotyping array
2011-04-07
21,408,207
Chung SA
2011-03-03
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/21408207
Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
Systemic lupus erythematosus
811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls
NA
12q21.2
12
76615280
RPL7AP59
RPL7AP9 - YWHAQP7
ENSG00000213272
ENSG00000271142
null
14,810
4,106
rs2669010-A
rs2669010
0
2669010
intron_variant
1
0.40
0.000005
5.30103
(anti-dsDNA -)
1.28
[1.16-1.42]
Illumina [421318] (imputed)
N
systemic lupus erythematosus
http://purl.obolibrary.org/obo/MONDO_0007915
GCST000996
Genome-wide genotyping array
2011-04-07
21,408,207
Chung SA
2011-03-03
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/21408207
Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
Systemic lupus erythematosus
811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls
NA
6p21.32
6
32255481
NOTCH4, C6orf10
TSBP1-AS1
null
null
ENSG00000225914
null
null
rs3130320-T
rs3130320
0
3130320
intron_variant
0
0.39
0.000003
5.522879
(case-only)
1.39
[1.21-1.60]
Illumina [421318] (imputed)
N
systemic lupus erythematosus
http://purl.obolibrary.org/obo/MONDO_0007915
GCST000996
Genome-wide genotyping array
2011-04-07
21,408,207
Chung SA
2011-03-03
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/21408207
Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
Systemic lupus erythematosus
811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls
NA
3q26.31
3
175243598
NAALADL2
NAALADL2, NAALADL2-AS2
null
null
ENSG00000177694, ENSG00000226779
null
null
rs1463525-?
rs1463525
0
1463525
intron_variant
0
0.43
0.000008
5.09691
(case-only)
1.37
[1.19-1.59]
Illumina [421318] (imputed)
N
systemic lupus erythematosus
http://purl.obolibrary.org/obo/MONDO_0007915
GCST000996
Genome-wide genotyping array
2011-04-07
21,408,207
Chung SA
2011-03-03
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/21408207
Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
Systemic lupus erythematosus
811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls
NA
6p21.32
6
32696681
HLA-DQA2, HLA-DQA1
HLA-DQB1 - MTCO3P1
ENSG00000179344
ENSG00000235040
null
28,298
9,443
rs2647012-A
rs2647012
0
2647012
intergenic_variant
1
0.44
0.000008
5.09691
(case-only)
1.38
[1.20-1.59]
Illumina [421318] (imputed)
N
systemic lupus erythematosus
http://purl.obolibrary.org/obo/MONDO_0007915
GCST000996
Genome-wide genotyping array
2014-04-26
24,105,470
Wu Y
2013-10-14
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/24105470
A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2.
Adiponectin levels
7,827 East Asian ancestry individuals
10,252 East Asian ancestry individuals
10q26.12
10
121185572
WDR11, FGFR2
LINC01153
null
null
ENSG00000227143
null
null
rs3943077-A
rs3943077
0
3943077
non_coding_transcript_exon_variant
0
0.567
0
13.522879
null
0.07
[0.050-0.090] unit increase
Affymetrix, Illumina [~ 2500000] (imputed)
N
adiponectin measurement
http://www.ebi.ac.uk/efo/EFO_0004502
GCST002233
Genome-wide genotyping array
2014-04-26
24,105,470
Wu Y
2013-10-14
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/24105470
A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2.
Adiponectin levels
7,827 East Asian ancestry individuals
10,252 East Asian ancestry individuals
12q13.11
12
48539450
OR8S1, LALBA
OR8S1 - OR5BS1
ENSG00000284723
ENSG00000198678
null
12,880
20,432
rs11168618-T
rs11168618
0
11168618
intergenic_variant
1
0.137
0
7
null
0.06
[0.040-0.080] unit decrease
Affymetrix, Illumina [~ 2500000] (imputed)
N
adiponectin measurement
http://www.ebi.ac.uk/efo/EFO_0004502
GCST002233
Genome-wide genotyping array
2014-04-26
24,105,470
Wu Y
2013-10-14
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/24105470
A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2.
Adiponectin levels
7,827 East Asian ancestry individuals
10,252 East Asian ancestry individuals
6q24.2
6
142798695
HIVEP2
HIVEP2
null
null
ENSG00000010818
null
null
rs12211360-A
rs12211360
0
12211360
intron_variant
0
0.966
0.000006
5.221849
null
0.16
[0.10-0.22] unit decrease
Affymetrix, Illumina [~ 2500000] (imputed)
N
adiponectin measurement
http://www.ebi.ac.uk/efo/EFO_0004502
GCST002233
Genome-wide genotyping array
2014-04-26
24,105,470
Wu Y
2013-10-14
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/24105470
A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2.
Adiponectin levels
7,827 East Asian ancestry individuals
10,252 East Asian ancestry individuals
16q23.3
16
82628663
CDH13
CDH13
null
null
ENSG00000140945
null
null
rs4783244-T
rs4783244
0
4783244
intron_variant
0
0.360
0
164.154902
null
0.33
[0.31-0.35] unit decrease
Affymetrix, Illumina [~ 2500000] (imputed)
N
adiponectin measurement
http://www.ebi.ac.uk/efo/EFO_0004502
GCST002233
Genome-wide genotyping array
2014-04-26
24,105,470
Wu Y
2013-10-14
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/24105470
A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2.
Adiponectin levels
7,827 East Asian ancestry individuals
10,252 East Asian ancestry individuals
3q27.3
3
186831906
ADIPOQ
MCF2L2P1 - ADIPOQ
ENSG00000231982
ENSG00000181092
null
4,569
10,798
rs10937273-A
rs10937273
0
10937273
intergenic_variant
1
0.404
0
21.69897
null
0.12
[0.10-0.14] unit increase
Affymetrix, Illumina [~ 2500000] (imputed)
N
adiponectin measurement
http://www.ebi.ac.uk/efo/EFO_0004502
GCST002233
Genome-wide genotyping array
2014-04-26
24,105,470
Wu Y
2013-10-14
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/24105470
A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2.
Adiponectin levels
7,827 East Asian ancestry individuals
10,252 East Asian ancestry individuals
19q13.11
19
33398094
PEPD
PEPD
null
null
ENSG00000124299
null
null
rs889140-A
rs889140
0
889140
intron_variant
0
0.450
0
11.39794
null
0.08
[0.060-0.100] unit increase
Affymetrix, Illumina [~ 2500000] (imputed)
N
adiponectin measurement
http://www.ebi.ac.uk/efo/EFO_0004502
GCST002233
Genome-wide genotyping array
2014-04-26
24,105,470
Wu Y
2013-10-14
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/24105470
A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2.
Adiponectin levels
7,827 East Asian ancestry individuals
10,252 East Asian ancestry individuals
16q23.2
16
81501185
CMIP
CMIP
null
null
ENSG00000153815
null
null
rs2925979-T
rs2925979
0
2925979
intron_variant
0
0.411
0
9.69897
null
0.08
[0.060-0.100] unit decrease
Affymetrix, Illumina [~ 2500000] (imputed)
N
adiponectin measurement
http://www.ebi.ac.uk/efo/EFO_0004502
GCST002233
Genome-wide genotyping array
2014-04-26
24,105,470
Wu Y
2013-10-14
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/24105470
A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2.
Adiponectin levels
7,827 East Asian ancestry individuals
10,252 East Asian ancestry individuals
12q24.31
12
124006982
ZNF664
RFLNA, ZNF664
null
null
ENSG00000178882, ENSG00000179195
null
null
rs1187415-C
rs1187415
0
1187415
intron_variant
0
0.920
0
6.69897
null
0.11
[0.071-0.149] unit decrease
Affymetrix, Illumina [~ 2500000] (imputed)
N
adiponectin measurement
http://www.ebi.ac.uk/efo/EFO_0004502
GCST002233
Genome-wide genotyping array
2014-04-26
24,105,470
Wu Y
2013-10-14
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/24105470
A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2.
Adiponectin levels
7,827 East Asian ancestry individuals
10,252 East Asian ancestry individuals
12q24.31
12
122903375
GPR109A
VPS37B - ABCB9
ENSG00000139722
ENSG00000150967
null
7,248
17,576
rs10847980-T
rs10847980
0
10847980
intron_variant
1
0.771
0.000007
5.154902
null
0.06
[0.040-0.080] unit decrease
Affymetrix, Illumina [~ 2500000] (imputed)
N
adiponectin measurement
http://www.ebi.ac.uk/efo/EFO_0004502
GCST002233
Genome-wide genotyping array
2014-04-26
24,105,470
Wu Y
2013-10-14
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/24105470
A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2.
Adiponectin levels
7,827 East Asian ancestry individuals
10,252 East Asian ancestry individuals
3q27.3
3
186783859
ADIPOQ
EIF4A2
null
null
ENSG00000156976
null
null
rs266719-T
rs266719
0
266719
non_coding_transcript_exon_variant
0
0.096
0.000001
6.154902
(Conditioned on rs10937273)
0.13
[0.071-0.189] unit increase
Affymetrix, Illumina [~ 2500000] (imputed)
N
adiponectin measurement
http://www.ebi.ac.uk/efo/EFO_0004502
GCST002233
Genome-wide genotyping array
2011-04-06
21,390,209
Hu X
2011-02-24
PLoS One
www.ncbi.nlm.nih.gov/pubmed/21390209
Meta-analysis for genome-wide association study identifies multiple variants at the BIN1 locus associated with late-onset Alzheimer's disease.
Alzheimer's disease (late onset)
1,831 European ancestry cases, 1,764 European ancestry controls
751 cases, 751 controls
2q14.3
2
127130409
BIN1
BIN1 - NIFKP9
ENSG00000136717
ENSG00000237630
null
22,853
39,602
rs12989701-?
rs12989701
0
12989701
intron_variant
1
NR
0
9.522879
null
1.23
[NR]
Affymetrix, Illumina [NR] (imputed)
N
Alzheimer disease
http://purl.obolibrary.org/obo/MONDO_0004975
GCST000986
Genome-wide genotyping array
2011-04-06
21,390,209
Hu X
2011-02-24
PLoS One
www.ncbi.nlm.nih.gov/pubmed/21390209
Meta-analysis for genome-wide association study identifies multiple variants at the BIN1 locus associated with late-onset Alzheimer's disease.
Alzheimer's disease (late onset)
1,831 European ancestry cases, 1,764 European ancestry controls
751 cases, 751 controls
2q14.3
2
127137039
BIN1
BIN1 - NIFKP9
ENSG00000136717
ENSG00000237630
null
29,483
32,972
rs744373-?
rs744373
0
744373
intergenic_variant
1
NR
0
10
null
1.19
[NR]
Affymetrix, Illumina [NR] (imputed)
N
Alzheimer disease
http://purl.obolibrary.org/obo/MONDO_0004975
GCST000986
Genome-wide genotyping array