Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913227
BRAF
0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 1
rs121913368
BRAF
0.925 0.040 7 140753345 missense variant AG/GA mnv 1
rs121909232
PTEN
0.776 0.160 10 87952258 stop gained C/A;G snv 4.0E-06 9
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
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
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
rs121434596
NRAS
0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 14
rs121434595
NRAS
0.708 0.320 1 114716124 missense variant C/A;G;T snv 13
rs121913403
CTNNB1
0.683 0.240 3 41224622 missense variant C/A;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
rs121913357
BRAF
0.742 0.320 7 140781603 stop gained C/A;G;T snv 11
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv 11
rs121913351
BRAF
0.776 0.240 7 140781611 missense variant C/A;G;T snv 4.0E-06 9
rs121913409
CTNNB1
0.708 0.400 3 41224646 missense variant C/A;G;T snv 9
rs112445441
KRAS
0.658 0.400 12 25245347 missense variant C/A;G;T snv 8
rs104894097
CDKN2A
0.807 0.240 9 21974757 missense variant C/A;G;T snv 1.7E-05; 1.3E-05 7
rs104894094
CDKN2A
0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06 6
rs121913361
BRAF
0.807 0.280 7 140753349 missense variant C/A;G;T snv 6
rs121913378
BRAF
0.776 0.280 7 140753337 missense variant C/A;G;T snv 6
rs397516792
MAP2K1
0.827 0.280 15 66436825 missense variant C/A;G;T snv 6
rs1805007
MC1R
0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 3