Disease: melanoma
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519874
RAC1
0.807 0.120 7 6387261 missense variant C/A;T snv 9
rs121913512
KIT
0.851 0.120 4 54728055 missense variant A/C;G snv 9
rs121913492
GNAQ
0.790 0.160 9 77794572 missense variant T/A;C;G snv 11
rs121913366
BRAF
0.763 0.400 7 140753345 missense variant A/C;T snv 12
rs16901979
PCAT1 ; CASC19
0.724 0.480 8 127112671 intron variant C/A snv 0.16 17
rs1057519710
KIT
0.695 0.280 4 54733166 missense variant G/C;T snv 22
rs121913403
CTNNB1
0.683 0.240 3 41224622 missense variant C/A;G;T snv 23
rs1870377
KDR
0.695 0.520 4 55106807 missense variant T/A snv 0.22 0.20 25
rs11547328
CDK4
0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06 27
rs1057519834
NRAS
0.658 0.480 1 114713908 missense variant TG/CT mnv 31
rs121913227
BRAF
0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 31
rs121913254
NRAS
0.658 0.440 1 114713909 stop gained G/A;C;T snv 31
rs17577
SLC12A5-AS1 ; MMP9
0.649 0.520 20 46014472 missense variant G/A;C snv 0.16 31
rs112445441
KRAS
0.658 0.400 12 25245347 missense variant C/A;G;T snv 32
rs121913364
BRAF
0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 34
rs1057519695
NRAS
0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 35
rs1444669684
CDKN2B-AS1 ; CDKN2A
0.658 0.480 9 21994285 missense variant C/A;T snv 36
rs2282679
GC
0.645 0.480 4 71742666 intron variant T/G snv 0.21 38
rs3834129
CASP8
0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 38
rs2736098
TERT
0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 48
rs397517132
EGFR
0.623 0.280 7 55191846 missense variant A/T snv 48
rs758272654
GNAS
0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 50
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs762846821
TP53
0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 57
rs11554290
NRAS
0.583 0.600 1 114713908 missense variant T/A;C;G snv 59