Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519747
TP53
0.716 0.280 17 7675094 missense variant A/C;G;T snv 17
rs864622237
TP53
0.716 0.320 17 7674263 missense variant A/C;G;T snv 17
rs1057519975
TP53
0.649 0.480 17 7675209 missense variant A/C;G;T snv 13
rs121913412
CTNNB1
0.724 0.280 3 41224633 missense variant A/C;G;T snv 10
rs1057519983
TP53
0.724 0.360 17 7673797 missense variant A/G snv 16
rs786205050
CACNA1H
0.827 0.080 16 1212024 missense variant A/G snv 7.0E-06 4
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 45
rs1131691023
TP53
1.000 0.080 17 7675142 missense variant A/G;T snv 2
rs866775781
TP53
0.716 0.440 17 7675216 splice acceptor variant C/A;G snv 17
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 39
rs587778720
TP53
0.667 0.360 17 7674893 missense variant C/A;G;T snv 4.0E-06 25
rs863224451
TP53
0.701 0.440 17 7673796 missense variant C/A;G;T snv 19
rs11554273
GNAS
0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06 17
rs121913409
CTNNB1
0.708 0.400 3 41224646 missense variant C/A;G;T snv 9
rs121912664
TP53
0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 7
rs876660754
TP53
0.701 0.360 17 7675095 missense variant C/A;T snv 18
rs28934578
TP53
0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 16
rs587781991
TP53
0.724 0.240 17 7675208 missense variant C/A;T snv 14
rs121913413
CTNNB1
0.763 0.240 3 41224634 missense variant C/A;T snv 9
rs397516896
BRAF
0.763 0.360 7 140753355 missense variant C/G;T snv 11
rs375338359
TP53
0.882 0.200 17 7670684 missense variant C/G;T snv 8.0E-06 3
rs121913281
PIK3CA
0.623 0.520 3 179234296 missense variant C/T snv 37
rs730882029
TP53
0.882 0.200 17 7670685 stop gained G/A snv 3
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv 26
rs121913399
CTNNB1
0.724 0.200 3 41224612 missense variant G/A;C snv 10