Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2010963
VEGFA
0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 1
rs1057519975
TP53
0.649 0.480 17 7675209 missense variant A/C;G;T snv 13
rs587782289
TP53
0.752 0.240 17 7674257 missense variant A/C;G;T snv 12
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
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 1
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 1
rs1057519858
STK11
1.000 0.080 19 1220495 missense variant G/T snv 1
rs1057519788
ROS1
0.925 0.080 6 117317184 missense variant C/T snv 1
rs121909219
PTEN
0.689 0.400 10 87957915 stop gained C/A;T snv 24
rs662
PON1
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 3
rs854560
PON1
0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 3
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
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 34
rs121913273
PIK3CA
0.605 0.440 3 179218294 missense variant G/A;C snv 21
rs121913283
PIK3CA
0.724 0.440 3 179234286 missense variant G/A;T snv 4.0E-06 14
rs397517200
PIK3CA
1.000 0.080 3 179210293 inframe deletion AGATTTGCTGAACCC/- del 1
rs397517202
PIK3CA
0.851 0.320 3 179234230 missense variant A/G snv 1
rs199475643
PAH
0.882 0.240 12 102894894 missense variant T/C snv 8.0E-06 1
rs11554290
NRAS
0.583 0.600 1 114713908 missense variant T/A;C;G snv 25
rs121913255
NRAS
0.667 0.400 1 114713907 missense variant T/A;G snv 19
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
rs876658657
MLH1
0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06 1