Disease: Cutaneous Melanoma
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121909224
PTEN
0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 35
rs121913357
BRAF
0.742 0.320 7 140781603 stop gained C/A;G;T snv 11
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv 26
rs786201059
TP53
0.701 0.360 17 7673764 stop gained C/A;G;T snv 19
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 34
rs104894226
LRRC56 ; HRAS
0.658 0.560 11 534285 missense variant C/A;G;T snv 23
rs104894228
LRRC56 ; HRAS
0.605 0.560 11 534286 missense variant C/A;G;T snv 30
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
rs1057519728
MAP2K1
0.851 0.120 15 66435103 missense variant T/A;C;G snv 5
rs1057519732
MAP2K1
0.827 0.160 15 66436824 missense variant C/A;T snv 6
rs1057519747
TP53
0.716 0.280 17 7675094 missense variant A/C;G;T snv 17
rs1057519841
PIK3R1
0.925 0.120 5 68295269 missense variant A/G snv 5
rs1057519882
CDKN2A
0.807 0.200 9 21974678 missense variant C/A snv 7
rs1057519883
CDKN2A
0.742 0.280 9 21971120 missense variant C/G;T snv 11
rs1057519884
CREBBP
0.752 0.240 16 3738616 missense variant C/A;T snv 11
rs1057519886
CTNNB1
0.752 0.240 3 41224609 missense variant T/A;C;G snv 11
rs1057519890
ERBB2
0.807 0.200 17 39723966 missense variant T/A snv 7
rs1057519896
FBXW7
0.742 0.320 4 152326136 missense variant C/A;T snv 12
rs1057519908
MAP2K1
0.882 0.120 15 66435105 missense variant T/G snv 4
rs1057519917
MTOR
0.807 0.160 1 11124517 missense variant A/G;T snv 7
rs1057519932
PIK3CA
0.683 0.320 3 179234298 missense variant T/G snv 22
rs1057519940
PIK3CA
0.752 0.200 3 179218308 missense variant G/T snv 13
rs1057519941
PIK3CA
0.776 0.240 3 179203761 missense variant T/C;G snv 9
rs1057519942
PIK3CA
0.724 0.320 3 179203760 missense variant G/A snv 15