Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2279744
MDM2
0.605 0.640 12 68808800 intron variant T/G snv 0.31 1
rs4402960
IGF2BP2
0.724 0.400 3 185793899 intron variant G/T snv 0.38 1
rs121909219
PTEN
0.689 0.400 10 87957915 stop gained C/A;T snv 24
rs121913357
BRAF
0.742 0.320 7 140781603 stop gained C/A;G;T snv 11
rs201744589
TP53
0.882 0.240 17 7673728 stop gained C/A;G;T snv 4.0E-06; 1.2E-05 3
rs1057523347
TP53
0.925 0.160 17 7673789 stop gained A/G;T snv 1
rs121913467
EGFR
1.000 0.080 7 55174730 stop gained G/A snv 1
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
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv 36
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 34
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 32
rs11554290
NRAS
0.583 0.600 1 114713908 missense variant T/A;C;G snv 25
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs121913273
PIK3CA
0.605 0.440 3 179218294 missense variant G/A;C snv 21
rs121913255
NRAS
0.667 0.400 1 114713907 missense variant T/A;G snv 19
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 19
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 18
rs121913348
BRAF
0.763 0.480 7 140781617 missense variant C/A;G;T snv 16
rs17851045
KRAS
0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06 15
rs121913283
PIK3CA
0.724 0.440 3 179234286 missense variant G/A;T snv 4.0E-06 14
rs121913364
BRAF
0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 14
rs1057519975
TP53
0.649 0.480 17 7675209 missense variant A/C;G;T snv 13
rs121913237
NRAS
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 12
rs121913250
NRAS
0.683 0.440 1 114716127 missense variant C/A;G;T snv 12