Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 45
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 39
rs121913281
PIK3CA
0.623 0.520 3 179234296 missense variant C/T snv 37
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
rs11554290
NRAS
0.583 0.600 1 114713908 missense variant T/A;C;G snv 25
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
rs1057519932
PIK3CA
0.683 0.320 3 179234298 missense variant T/G snv 22
rs1057520003
TP53
0.695 0.320 17 7675996 missense variant T/G snv 20
rs121913255
NRAS
0.667 0.400 1 114713907 missense variant T/A;G snv 19
rs863224451
TP53
0.701 0.440 17 7673796 missense variant C/A;G;T snv 19
rs876660754
TP53
0.701 0.360 17 7675095 missense variant C/A;T snv 18
rs11554273
GNAS
0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06 17
rs1057519747
TP53
0.716 0.280 17 7675094 missense variant A/C;G;T snv 17
rs587780073
TP53
0.708 0.400 17 7674262 missense variant T/C;G snv 17
rs747342068
TP53
0.695 0.440 17 7675218 missense variant T/C;G snv 4.0E-06 17
rs864622237
TP53
0.716 0.320 17 7674263 missense variant A/C;G;T snv 17
rs866775781
TP53
0.716 0.440 17 7675216 splice acceptor variant C/A;G snv 17
rs1057519983
TP53
0.724 0.360 17 7673797 missense variant A/G snv 16
rs1057519996
TP53
0.701 0.360 17 7675217 splice acceptor variant T/A;C;G snv 16
rs28934578
TP53
0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 16
rs121913495
GNAS
0.672 0.400 20 58909366 missense variant G/A;T snv 15
rs587781991
TP53
0.724 0.240 17 7675208 missense variant C/A;T snv 14
rs28931589
CTNNB1
0.695 0.240 3 41224613 missense variant G/A;C;T snv 13