gene
large_stringclasses
132 values
allele
large_stringclasses
978 values
rsid
large_stringclasses
980 values
chrom
large_stringclasses
23 values
start
int64
663
234M
variant_allele
large_stringclasses
81 values
ABCG2
rs2231142 reference (G)
rs2231142
4
88,131,171
G
ABCG2
rs2231142 variant (T)
rs2231142
4
88,131,171
T
CACNA1S
Reference
rs1800559
1
201,060,815
C
CACNA1S
Reference
rs772226819
1
201,091,993
G
CACNA1S
c.3257G>A
rs1800559
1
201,060,815
T
CACNA1S
c.520C>T
rs772226819
1
201,091,993
A
CFTR
2789+5G->A
rs80224560
7
117,602,868
A
CFTR
3272-26A->G
rs76151804
7
117,611,555
G
CFTR
3849+10kbC->T
rs75039782
7
117,639,961
T
CFTR
711+3A->G
rs397508761
7
117,534,368
G
CFTR
A1067T
rs121909020
7
117,611,640
A
CFTR
A120T
rs201958172
7
117,530,983
A
CFTR
A234D
rs769016520
7
117,535,369
A
CFTR
A349V
rs121909021
7
117,540,276
T
CFTR
A455E
rs74551128
7
117,548,795
A
CFTR
D110E
rs397508537
7
117,530,955
A
CFTR
D110H
rs113993958
7
117,530,953
C
CFTR
D1152H
rs75541969
7
117,614,699
C
CFTR
D1270N
rs11971167
7
117,642,528
A
CFTR
D192G
rs397508758
7
117,534,361
G
CFTR
D579G
rs397508288
7
117,590,409
G
CFTR
D924N
rs201759207
7
117,603,644
A
CFTR
E193K
rs397508759
7
117,534,363
A
CFTR
E56K
rs397508256
7
117,509,035
A
CFTR
E822K
rs397508378
7
117,592,631
A
CFTR
E831X
rs397508387
7
117,594,930
T
CFTR
F1052V
rs150212784
7
117,611,595
G
CFTR
F1074L
rs186045772
7
117,611,663
A
CFTR
F311L
rs2116683801
7
117,540,161
C
CFTR
F311del
null
7
117,540,161
DELTTC
CFTR
F508C
rs74571530
7
117,559,594
C
CFTR
F508C,S1251N
rs74571530
7
117,559,594
C
CFTR
F508C,S1251N
rs74503330
7
117,642,472
A
CFTR
G1069R
rs200321110
7
117,611,646
A
CFTR
G1244E
rs267606723
7
117,642,451
A
CFTR
G1249R(G>A)
rs397508602
7
117,642,465
A
CFTR
G1249R(G>C)
rs397508602
7
117,642,465
C
CFTR
G1349D
rs193922525
7
117,664,770
A
CFTR
G178E
rs397508748
7
117,534,319
A
CFTR
G178R
rs80282562
7
117,534,318
A
CFTR
G194R(G>A)
rs376008630
7
117,535,248
A
CFTR
G194R(G>C)
rs376008630
7
117,535,248
C
CFTR
G314E
rs75763344
7
117,540,171
A
CFTR
G551D
rs75527207
7
117,587,806
A
CFTR
G551S
rs121909013
7
117,587,805
A
CFTR
G576A
rs1800098
7
117,590,400
C
CFTR
G970D
rs386134230
7
117,606,674
A
CFTR
H1375P
rs397508678
7
117,664,848
C
CFTR
H939R
rs397508440
7
117,603,690
G
CFTR
I1027T
rs1800112
7
117,610,610
C
CFTR
I1139V
rs397508556
7
117,614,660
G
CFTR
I148T
rs35516286
7
117,531,068
C
CFTR
I175V
rs397508744
7
117,534,309
G
CFTR
I807M
rs1800103
7
117,592,588
G
CFTR
K1060T
rs397508513
7
117,611,620
C
CFTR
L1480P
rs758818611
7
117,667,104
C
CFTR
L206W
rs121908752
7
117,535,285
G
CFTR
L320V
rs144476686
7
117,540,188
G
CFTR
L967S
rs1800110
7
117,603,774
C
CFTR
L997F(G>C)
rs1800111
7
117,610,521
C
CFTR
L997F(G>T)
rs1800111
7
117,610,521
T
CFTR
M152V
rs397508721
7
117,531,079
G
CFTR
M952I(G>A)
rs151048781
7
117,603,730
A
CFTR
M952I(G>C)
rs151048781
7
117,603,730
C
CFTR
M952I(G>T)
rs151048781
7
117,603,730
T
CFTR
M952T
rs142773283
7
117,603,729
C
CFTR
P67L
rs368505753
7
117,509,069
T
CFTR
Q1291R
rs397508621
7
117,642,592
G
CFTR
Q237E
rs397508784
7
117,535,377
G
CFTR
Q237H
rs397508785
7
117,535,379
C
CFTR
Q359R
rs397508153
7
117,540,306
G
CFTR
R1070Q
rs78769542
7
117,611,650
A
CFTR
R1070W
rs202179988
7
117,611,649
T
CFTR
R1162L
rs1800120
7
117,627,538
T
CFTR
R117C
rs77834169
7
117,530,974
T
CFTR
R117G
rs77834169
7
117,530,974
G
CFTR
R117H
rs78655421
7
117,530,975
A
CFTR
R117L
rs78655421
7
117,530,975
T
CFTR
R117P
rs78655421
7
117,530,975
C
CFTR
R1283M
rs77902683
7
117,642,568
T
CFTR
R170H
rs1800079
7
117,534,295
A
CFTR
R347H
rs77932196
7
117,540,270
A
CFTR
R347L
rs77932196
7
117,540,270
T
CFTR
R352Q
rs121908753
7
117,540,285
A
CFTR
R553Q
rs121909044
7
117,587,812
A
CFTR
R668C
rs1800100
7
117,592,169
T
CFTR
R74W
rs115545701
7
117,509,089
T
CFTR
R75Q
rs1800076
7
117,509,093
A
CFTR
R792G
rs145449046
7
117,592,541
G
CFTR
R933G
rs397508436
7
117,603,671
G
CFTR
S1159F
rs397508573
7
117,627,529
T
CFTR
S1159P
rs397508572
7
117,627,528
C
CFTR
S1251N
rs74503330
7
117,642,472
A
CFTR
S1255P
rs121909041
7
117,642,483
C
CFTR
S549N
rs121908755
7
117,587,800
A
CFTR
S549R(A>C)
rs121908757
7
117,587,799
C
CFTR
S549R(T>G)
rs121909005
7
117,587,801
G
CFTR
S589N
rs397508300
7
117,590,439
A
CFTR
S737F
rs186089140
7
117,592,377
T
CFTR
S945L
rs397508442
7
117,603,708
T