Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs12203592
IRF4
0.649 0.320 6 396321 intron variant C/T snv 0.10 1
rs12913832
HERC2
0.763 0.200 15 28120472 intron variant A/G snv 0.50 1
rs121913357
BRAF
0.742 0.320 7 140781603 stop gained C/A;G;T snv 11
rs121909232
PTEN
0.776 0.160 10 87952258 stop gained C/A;G snv 4.0E-06 9
rs118203998
PALB2
0.790 0.400 16 23603471 stop gained G/C;T snv 1.6E-05; 4.0E-06 8
rs180177132
PALB2
0.790 0.280 16 23621362 stop gained C/T snv 6.0E-05 2.1E-05 8
rs80358683
BRCA2
0.851 0.120 13 32338880 stop gained C/T snv 5
rs869312757
BAP1
0.925 0.120 3 52405163 stop gained G/A;C snv 3
rs121913323
STK11
1.000 0.040 19 1220416 stop gained C/T snv 2
rs121913388
CDKN2A
0.925 0.040 9 21971121 stop gained G/A;C snv 4.4E-06 2
rs121913254
NRAS
0.658 0.440 1 114713909 stop gained G/A;C;T snv 1
rs387906659
AKT2
0.742 0.280 19 40257052 stop gained C/A;T snv 1
rs104894229
LRRC56 ; HRAS
0.564 0.600 11 534289 missense variant C/A;G;T snv 52
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 45
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
rs121913343
TP53
0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 29
rs121913274
PIK3CA
0.645 0.320 3 179218304 missense variant A/C;G;T snv 28
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
rs121913233
HRAS ; LRRC56
0.627 0.520 11 533874 missense variant T/A;C;G snv 20
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
rs121913348
BRAF
0.763 0.480 7 140781617 missense variant C/A;G;T snv 16
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv 16