Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519941
PIK3CA
0.776 0.240 3 179203761 missense variant T/C;G snv 9
rs121913470
ERBB2
0.776 0.200 17 39723967 missense variant T/C;G snv 7
rs754688962
SF3B1
0.851 0.200 2 197402637 missense variant T/C;G snv 5
rs397508940
BRCA1
1.000 17 43104958 splice acceptor variant T/C;G snv 2
rs148924904
TP53
0.724 0.360 17 7675124 missense variant T/C snv 7.0E-06 17
rs876660807
TP53
0.763 0.160 17 7674248 missense variant T/C snv 12
rs1057519937
PIK3CA
0.776 0.200 3 179234285 missense variant T/C snv 11
rs80357382
BRCA1
0.763 0.240 17 43106457 missense variant T/C snv 4.0E-06 7
rs80357287
NBR2 ; BRCA1
0.882 0.200 17 43124096 start lost T/C snv 4
rs1057519714
ESR1
6 152094402 missense variant T/C snv 1
rs1057519857
ERBB2 ; MIR4728
0.882 0.080 17 39724772 missense variant T/C snv 1
rs121913284
PIK3CA
0.776 0.160 3 179203765 missense variant T/A;G snv 10
rs786203071
TP53
0.776 0.240 17 7675181 missense variant T/A;G snv 8
rs1057520010
XPO1
0.882 0.200 2 61492336 missense variant T/A;G snv 5
rs80357303
BRCA1
0.925 0.200 17 43071113 stop gained T/A;G snv 4.0E-06 4
rs397507649
BRCA2
1.000 13 32337345 stop gained T/A;G snv 2
rs397507967
BRCA2
1.000 13 32363397 stop gained T/A;G snv 2
rs786202676
CHEK2
22 28696956 missense variant T/A;G snv 1
rs786201838
TP53
0.683 0.440 17 7674953 missense variant T/A;C;G snv 23
rs121913233
HRAS ; LRRC56
0.627 0.520 11 533874 missense variant T/A;C;G snv 20
rs587781525
TP53
0.689 0.480 17 7673778 missense variant T/A;C;G snv 20
rs1057519991
TP53
0.662 0.440 17 7675076 missense variant T/A;C;G snv 4.0E-06 19
rs1057520007
TP53
0.701 0.440 17 7674917 missense variant T/A;C;G snv 17
rs1057519996
TP53
0.701 0.360 17 7675217 splice acceptor variant T/A;C;G snv 16
rs1057519985
TP53
0.724 0.360 17 7673763 missense variant T/A;C;G snv 15