Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1023835002
B2M ; PATL2
0.763 0.280 15 44711547 start lost A/G;T snv 10
rs1057519917
MTOR
0.807 0.160 1 11124517 missense variant A/G;T snv 7
rs267601395
EZH2
0.925 0.160 7 148811636 missense variant A/G;T snv 3
rs121913227
BRAF
0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 1
rs1057519882
CDKN2A
0.807 0.200 9 21974678 missense variant C/A snv 7
rs121913286
PIK3CA
0.677 0.280 3 179218306 missense variant C/A;G snv 20
rs1057520005
TP53
0.742 0.360 17 7673800 missense variant C/A;G snv 11
rs1805006
MC1R
0.790 0.080 16 89919510 missense variant C/A;G snv 5.2E-03; 4.0E-06 1
rs104894229
LRRC56 ; HRAS
0.564 0.600 11 534289 missense variant C/A;G;T snv 52
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 42
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 39
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv 36
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 32
rs104894228
LRRC56 ; HRAS
0.605 0.560 11 534286 missense variant C/A;G;T snv 30
rs587778720
TP53
0.667 0.360 17 7674893 missense variant C/A;G;T snv 4.0E-06 25
rs104894226
LRRC56 ; HRAS
0.658 0.560 11 534285 missense variant C/A;G;T snv 23
rs730882008
TP53
0.683 0.440 17 7673775 missense variant C/A;G;T snv 4.0E-06 22
rs764146326
TP53
0.662 0.480 17 7673779 missense variant C/A;G;T snv 4.0E-06 20
rs786201059
TP53
0.701 0.360 17 7673764 stop gained C/A;G;T snv 19
rs863224451
TP53
0.701 0.440 17 7673796 missense variant C/A;G;T snv 19
rs121912660
TP53
0.683 0.240 17 7673781 missense variant C/A;G;T snv 18
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 18
rs11554273
GNAS
0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06 17
rs121913400
CTNNB1
0.683 0.360 3 41224610 missense variant C/A;G;T snv 17
rs483352697
TP53
0.695 0.480 17 7674944 missense variant C/A;G;T snv 4.0E-06 17