Disease: Cutaneous Melanoma
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587777894
MTOR
0.776 0.240 1 11124516 missense variant G/A;T snv 9
rs1057519917
MTOR
0.807 0.160 1 11124517 missense variant A/G;T snv 7
rs121913255
NRAS
0.667 0.400 1 114713907 missense variant T/A;G snv 19
rs11554290
NRAS
0.583 0.600 1 114713908 missense variant T/A;C;G snv 25
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
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
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 35
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs121913338
BRAF
0.677 0.400 7 140753354 missense variant T/A;C;G snv 12
rs397516896
BRAF
0.763 0.360 7 140753355 missense variant C/G;T snv 11
rs121913370
BRAF
0.763 0.360 7 140753393 missense variant T/C;G snv 9
rs180177040
BRAF
0.790 0.360 7 140754187 missense variant T/C;G snv 9
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 32
rs121913357
BRAF
0.742 0.320 7 140781603 stop gained 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
rs759610249
FBXW7
0.790 0.160 4 152323032 missense variant C/T snv 8.0E-06 7.0E-06 8
rs1057519896
FBXW7
0.742 0.320 4 152326136 missense variant C/A;T snv 12
rs149680468
FBXW7
0.742 0.320 4 152326137 missense variant G/A;C;T snv 12
rs866987936
FBXW7
0.752 0.240 4 152326214 missense variant C/A;G;T snv 12
rs747241612
FBXW7
0.752 0.240 4 152326215 missense variant G/C snv 4.0E-06 12
rs1057519942
PIK3CA
0.724 0.320 3 179203760 missense variant G/A snv 15
rs1057519941
PIK3CA
0.776 0.240 3 179203761 missense variant T/C;G snv 9
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 34