Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913338
BRAF
0.677 0.400 7 140753354 missense variant T/A;C;G snv 12
rs397516896
BRAF
0.763 0.360 7 140753355 missense variant C/G;T snv 11
rs786205050
CACNA1H
0.827 0.080 16 1212024 missense variant A/G snv 7.0E-06 4
rs28931589
CTNNB1
0.695 0.240 3 41224613 missense variant G/A;C;T snv 13
rs121913399
CTNNB1
0.724 0.200 3 41224612 missense variant G/A;C snv 10
rs121913407
CTNNB1
0.763 0.240 3 41224645 missense variant T/C;G snv 10
rs121913412
CTNNB1
0.724 0.280 3 41224633 missense variant A/C;G;T snv 10
rs121913409
CTNNB1
0.708 0.400 3 41224646 missense variant C/A;G;T snv 9
rs121913413
CTNNB1
0.763 0.240 3 41224634 missense variant C/A;T snv 9
rs6471
CYP21A2
0.683 0.360 6 32040110 missense variant G/A;C;T snv 1.2E-05; 5.3E-03 4
rs11554273
GNAS
0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06 17
rs121913495
GNAS
0.672 0.400 20 58909366 missense variant G/A;T snv 15
rs1057519902
H3-3A
0.742 0.160 1 226064451 missense variant G/C snv 4
rs63749993
MSH2
0.882 0.200 2 47476424 missense variant T/G snv 3
rs11554290
NRAS
0.583 0.600 1 114713908 missense variant T/A;C;G snv 25
rs121913255
NRAS
0.667 0.400 1 114713907 missense variant T/A;G snv 19
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 45
rs121913281
PIK3CA
0.623 0.520 3 179234296 missense variant C/T snv 37
rs1057519932
PIK3CA
0.683 0.320 3 179234298 missense variant T/G snv 22
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 39
rs121913343
TP53
0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 29
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv 26
rs587778720
TP53
0.667 0.360 17 7674893 missense variant C/A;G;T snv 4.0E-06 25
rs786201057
TP53
0.677 0.400 17 7675995 missense variant G/A;C;T snv 24
rs1057520003
TP53
0.695 0.320 17 7675996 missense variant T/G snv 20