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
rs1057519747
TP53
0.716 0.280 17 7675094 missense variant A/C;G;T snv 17
rs1057520006
TP53
0.752 0.240 17 7673799 missense variant A/C;G;T snv 12
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs121913274
PIK3CA
0.645 0.320 3 179218304 missense variant A/C;G;T snv 28
rs121913412
CTNNB1
0.724 0.280 3 41224633 missense variant A/C;G;T snv 10
rs397517201
PIK3CA
0.732 0.240 3 179218307 missense variant A/C;G;T snv 14
rs530941076
TP53
0.695 0.280 17 7674873 missense variant A/C;G;T snv 4.0E-06 20
rs786203436
TP53
0.701 0.280 17 7675125 missense variant A/C;G;T snv 15
rs876660821
TP53
0.689 0.400 17 7675075 missense variant A/C;G;T snv 21
rs1057519841
PIK3R1
0.925 0.120 5 68295269 missense variant A/G snv 5
rs1057519983
TP53
0.724 0.360 17 7673797 missense variant A/G snv 16
rs1023835002
B2M ; PATL2
0.763 0.280 15 44711547 start lost A/G;T snv 10
rs1057519917
MTOR
0.807 0.160 1 11124517 missense variant A/G;T snv 7
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 45
rs1057519882
CDKN2A
0.807 0.200 9 21974678 missense variant C/A snv 7
rs1057520005
TP53
0.742 0.360 17 7673800 missense variant C/A;G snv 11
rs121913286
PIK3CA
0.677 0.280 3 179218306 missense variant C/A;G snv 20
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
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 42
rs11554273
GNAS
0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06 17
rs121434595
NRAS
0.708 0.320 1 114716124 missense variant C/A;G;T snv 13