rsid
large_stringlengths
5
12
module
large_stringclasses
9 values
gene
large_stringlengths
0
18
phenotype
large_stringlengths
0
1.02k
category
large_stringclasses
13 values
null
cancer
AKT3
AKT3 related microcephaly
rs2147921624
cancer
AKT3
not provided
rs2147921662
cancer
AKT3
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
rs397514606
cancer
AKT3
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes|Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
rs1553370260
cancer
MYCN
Feingold syndrome type 1
rs886041290
cancer
MYCN
not provided
rs1662700407
cancer
MYCN
Feingold syndrome type 1
rs780080562
cancer
MYCN
Feingold syndrome type 1|not provided
rs2103323892
cancer
MYCN
Feingold syndrome type 1
null
cancer
MYCN
not provided
rs2103324037
cancer
MYCN
Megalencephaly-polydactyly syndrome|See cases
rs2103324191
cancer
MYCN
not provided
rs113994115
cancer
MYCN
Feingold syndrome type 1
rs1558533831
cancer
MYCN
not provided
rs121913667
cancer
MYCN
Feingold syndrome type 1
rs1572217314
cancer
MYCN
Feingold syndrome type 1
rs2527925277
cancer
MYCN
MYCN-related disorder
rs2527925425
cancer
MYCN
not provided
rs2527925514
cancer
MYCN
Inborn genetic diseases
rs2527925687
cancer
MYCN
Feingold syndrome type 1
rs2103324867
cancer
MYCN
Feingold syndrome type 1|not provided
null
cancer
MYCN
Feingold syndrome type 1|Megalencephaly-polydactyly syndrome
rs886041801
cancer
MYCN
not provided|Inborn genetic diseases
rs1572217717
cancer
MYCN
not provided
rs886039427
cancer
MYCN
not provided
null
cancer
MYCN
not provided
rs2103325472
cancer
MYCN
Feingold syndrome type 1
rs2527927539
cancer
MYCN
not provided|Feingold syndrome type 1
rs1558534266
cancer
MYCN
not provided|Feingold syndrome type 1
rs2527927639
cancer
MYCN
Feingold syndrome type 1
null
cancer
MYCN
Feingold syndrome type 1
rs2527928565
cancer
MYCN
Feingold syndrome type 1
rs1558534492
cancer
MYCN
not provided
rs1553370518
cancer
MYCN
not provided
null
cancer
MYCN
MYCN-related disorder
rs2103330255
cancer
MYCN
Feingold syndrome type 1
rs1662837763
cancer
MYCN
Inborn genetic diseases
rs886042150
cancer
MYCN
not provided
null
cancer
MYCN
Feingold syndrome type 1
rs2103330395
cancer
MYCN
not provided
rs1572220856
cancer
MYCN
Feingold syndrome type 1
null
cancer
MYCN
not provided
rs1553370918
cancer
MYCN
Feingold syndrome type 1
rs2527936786
cancer
MYCN
MYCN-related disorder
rs2527936984
cancer
MYCN
Inborn genetic diseases
rs2103330798
cancer
MYCN
not provided
rs759103701
cancer
MYCN
not provided|Feingold syndrome type 1
null
cancer
MYCN
Feingold syndrome type 1
rs367962377
cancer
MYCN
Feingold syndrome type 1
rs1662848905
cancer
MYCN
Inborn genetic diseases
rs2103331059
cancer
MYCN
not provided
rs1553370963
cancer
MYCN
Feingold syndrome type 1
rs1662852731
cancer
MYCN
not provided
rs754137452
cancer
MYCN
not provided|Feingold syndrome type 1|Megalencephaly-polydactyly syndrome
rs886039428
cancer
MYCN
not provided
rs1572221449
cancer
MYCN
not provided
rs998174759
cancer
MYCN
not provided
rs1572221505
cancer
MYCN
not provided
rs1553370992
cancer
MYCN
not provided
rs1662856733
cancer
MYCN
Feingold syndrome type 1
null
cancer
MYCN
Feingold syndrome type 1
null
cancer
MYCN
Feingold syndrome type 1
rs104893647
cancer
MYCN
Feingold syndrome type 1
rs104893646
cancer
MYCN
Feingold syndrome|not provided|Feingold syndrome type 1
rs104893648
cancer
MYCN
Feingold syndrome|Feingold syndrome type 1
rs1057517770
cancer
MYCN
not provided
rs1553371008
cancer
MYCN
not provided
rs2103331674
cancer
MYCN
Feingold syndrome type 1
rs2527938896
cancer
MYCN
Feingold syndrome type 1
rs2527938946
cancer
MYCN
not provided
rs2103332022
cancer
MYCN
not provided
rs1057521724
cancer
MYCN
not provided
rs1064794600
cancer
MYCN
not provided
rs1673065619
cancer
DNMT3A
DNMT3A-related disorder|not provided
rs1558650788
cancer
DNMT3A
Intellectual disability
rs149095705
cancer
DNMT3A
Inborn genetic diseases|Autism spectrum disorder|Tatton-Brown-Rahman overgrowth syndrome|not provided|EBV-positive nodal T- and NK-cell lymphoma
rs1558650888
cancer
DNMT3A
Glioblastoma
rs587777510
cancer
DNMT3A
Tatton-Brown-Rahman overgrowth syndrome
rs960019580
cancer
DNMT3A
Neurodevelopmental disorder
rs750515748
cancer
DNMT3A
Tatton-Brown-Rahman overgrowth syndrome
null
cancer
DNMT3A
Tatton-Brown-Rahman overgrowth syndrome
rs1573291900
cancer
DNMT3A
not provided
rs147001633
cancer
DNMT3A
Inborn genetic diseases|Tatton-Brown-Rahman overgrowth syndrome|not specified|Abnormality of the nervous system|EBV-positive nodal T- and NK-cell lymphoma|DNMT3A-related disorder|not provided|Acute myeloid leukemia|Clonal Cytopenia of Undetermined Significance|Intellectual disability
rs377577594
cancer
DNMT3A
DNMT3A-related disorder|Heyn-Sproul-Jackson syndrome|Neurodevelopmental disorder|Tatton-Brown-Rahman overgrowth syndrome|not provided|EBV-positive nodal T- and NK-cell lymphoma|Inborn genetic diseases|Acute myeloid leukemia
rs2465314655
cancer
DNMT3A
Tatton-Brown-Rahman overgrowth syndrome
null
cancer
DNMT3A
Inborn genetic diseases
rs766506181
cancer
DNMT3A
Tatton-Brown-Rahman overgrowth syndrome
null
cancer
DNMT3A
not provided
rs764855628
cancer
DNMT3A
Tatton-Brown-Rahman overgrowth syndrome
null
cancer
DNMT3A
Tatton-Brown-Rahman overgrowth syndrome
rs376830288
cancer
DNMT3A
Intellectual disability|Inborn genetic diseases
rs1558653090
cancer
DNMT3A
Tatton-Brown-Rahman overgrowth syndrome
rs781139634
cancer
DNMT3A
Inborn genetic diseases
rs771174392
cancer
DNMT3A
Acute myeloid leukemia|Tatton-Brown-Rahman overgrowth syndrome
rs1573297136
cancer
DNMT3A
Tatton-Brown-Rahman overgrowth syndrome
null
cancer
DNMT3A
Tatton-Brown-Rahman overgrowth syndrome
rs775933506
cancer
DNMT3A
Tatton-Brown-Rahman overgrowth syndrome
rs762213449
cancer
DNMT3A
not provided
rs1200243711
cancer
DNMT3A
not provided
null
cancer
DNMT3A
Tatton-Brown-Rahman overgrowth syndrome