Disease: Cutaneous Melanoma
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519728
MAP2K1
0.851 0.120 15 66435103 missense variant T/A;C;G snv 5
rs1057519841
PIK3R1
0.925 0.120 5 68295269 missense variant A/G snv 5
rs1057519908
MAP2K1
0.882 0.120 15 66435105 missense variant T/G snv 4
rs1057519732
MAP2K1
0.827 0.160 15 66436824 missense variant C/A;T snv 6
rs1057519917
MTOR
0.807 0.160 1 11124517 missense variant A/G;T snv 7
rs759610249
FBXW7
0.790 0.160 4 152323032 missense variant C/T snv 8.0E-06 7.0E-06 8
rs1057519882
CDKN2A
0.807 0.200 9 21974678 missense variant C/A snv 7
rs1057519890
ERBB2
0.807 0.200 17 39723966 missense variant T/A snv 7
rs1057519940
PIK3CA
0.752 0.200 3 179218308 missense variant G/T snv 13
rs121913470
ERBB2
0.776 0.200 17 39723967 missense variant T/C;G snv 7
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
rs1057519941
PIK3CA
0.776 0.240 3 179203761 missense variant T/C;G snv 9
rs1057520006
TP53
0.752 0.240 17 7673799 missense variant A/C;G;T snv 12
rs11554273
GNAS
0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06 17
rs121913351
BRAF
0.776 0.240 7 140781611 missense variant C/A;G;T snv 4.0E-06 9
rs121913407
CTNNB1
0.763 0.240 3 41224645 missense variant T/C;G 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
rs397517201
PIK3CA
0.732 0.240 3 179218307 missense variant A/C;G;T snv 14
rs587777894
MTOR
0.776 0.240 1 11124516 missense variant G/A;T snv 9
rs747241612
FBXW7
0.752 0.240 4 152326215 missense variant G/C snv 4.0E-06 12
rs770248150
KRAS
0.807 0.240 12 25225713 missense variant T/A;G snv 4.0E-06 6
rs866987936
FBXW7
0.752 0.240 4 152326214 missense variant C/A;G;T snv 12
rs1023835002
B2M ; PATL2
0.763 0.280 15 44711547 start lost A/G;T snv 10