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
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
rs121913365
BRAF
0.776 0.320 7 140753332 missense variant T/A;G snv 8
rs397507484
BRAF
0.752 0.480 7 140753333 missense variant T/A;C;G snv 10
rs121913364
BRAF
0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 14
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
rs121913274
PIK3CA
0.645 0.320 3 179218304 missense variant A/C;G;T snv 28
rs121913275
PIK3CA
0.672 0.320 3 179218305 missense variant G/A;C;T snv 4.0E-06 25
rs121913286
PIK3CA
0.677 0.280 3 179218306 missense variant C/A;G snv 20
rs397517201
PIK3CA
0.732 0.240 3 179218307 missense variant A/C;G;T snv 14
rs1057519940
PIK3CA
0.752 0.200 3 179218308 missense variant G/T snv 13
rs121913281
PIK3CA
0.623 0.520 3 179234296 missense variant C/T snv 37
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 45
rs1057519932
PIK3CA
0.683 0.320 3 179234298 missense variant T/G snv 22