Disease: Cutaneous Melanoma
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057520002
TP53
0.695 0.360 17 7674242 missense variant A/C;G snv 20
rs1057520003
TP53
0.695 0.320 17 7675996 missense variant T/G snv 20
rs1057520005
TP53
0.742 0.360 17 7673800 missense variant C/A;G snv 11
rs1057520006
TP53
0.752 0.240 17 7673799 missense variant A/C;G;T snv 12
rs11554290
NRAS
0.583 0.600 1 114713908 missense variant T/A;C;G snv 25
rs121434595
NRAS
0.708 0.320 1 114716124 missense variant C/A;G;T snv 13
rs121909229
PTEN
0.683 0.400 10 87933148 missense variant G/A;C;T snv 23
rs121913233
HRAS ; LRRC56
0.627 0.520 11 533874 missense variant T/A;C;G snv 20
rs121913250
NRAS
0.683 0.440 1 114716127 missense variant C/A;G;T snv 12
rs121913255
NRAS
0.667 0.400 1 114713907 missense variant T/A;G snv 19
rs121913274
PIK3CA
0.645 0.320 3 179218304 missense variant A/C;G;T snv 28
rs121913281
PIK3CA
0.623 0.520 3 179234296 missense variant C/T snv 37
rs121913286
PIK3CA
0.677 0.280 3 179218306 missense variant C/A;G snv 20
rs121913338
BRAF
0.677 0.400 7 140753354 missense variant T/A;C;G snv 12
rs121913357
BRAF
0.742 0.320 7 140781603 stop gained C/A;G;T snv 11
rs121913370
BRAF
0.763 0.360 7 140753393 missense variant T/C;G snv 9
rs121913400
CTNNB1
0.683 0.360 3 41224610 missense variant C/A;G;T snv 17
rs121913407
CTNNB1
0.763 0.240 3 41224645 missense variant T/C;G snv 10
rs121913409
CTNNB1
0.708 0.400 3 41224646 missense variant C/A;G;T snv 9
rs121913412
CTNNB1
0.724 0.280 3 41224633 missense variant A/C;G;T snv 10
rs121913413
CTNNB1
0.763 0.240 3 41224634 missense variant C/A;T snv 9
rs121913469
ERBB2
0.763 0.240 17 39723966 missense variant TT/CC mnv 8
rs121913470
ERBB2
0.776 0.200 17 39723967 missense variant T/C;G snv 7
rs121913495
GNAS
0.672 0.400 20 58909366 missense variant G/A;T snv 15
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv 16