Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs4950928
CHI3L1
0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv 1
rs112445441
KRAS
0.658 0.400 12 25245347 missense variant C/A;G;T snv 8
rs1057519834
NRAS
0.658 0.480 1 114713908 missense variant TG/CT mnv 1
rs121913254
NRAS
0.658 0.440 1 114713909 stop gained G/A;C;T snv 1
rs78378222
TP53
0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 1
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 33
rs121913255
NRAS
0.667 0.400 1 114713907 missense variant T/A;G snv 19
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 12
rs121913240
KRAS
0.672 0.440 12 25227342 missense variant T/A;C;G snv 6
rs121434596
NRAS
0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 14
rs121913338
BRAF
0.677 0.400 7 140753354 missense variant T/A;C;G snv 12
rs36053993
MUTYH
0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 9
rs121913506
KIT
0.677 0.320 4 54733154 missense variant G/A;C;T snv 6
rs121913403
CTNNB1
0.683 0.240 3 41224622 missense variant C/A;G;T snv 13
rs121913250
NRAS
0.683 0.440 1 114716127 missense variant C/A;G;T snv 12
rs1126809
LOC107984363 ; TYR
0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 11
rs121912654
TP53
0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 3
rs28931589
CTNNB1
0.695 0.240 3 41224613 missense variant G/A;C;T snv 13
rs1805007
MC1R
0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 3
rs1057519710
KIT
0.695 0.280 4 54733166 missense variant G/C;T snv 1
rs28931588
CTNNB1
0.701 0.200 3 41224606 missense variant G/A;C;T snv 14
rs11547328
CDK4
0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06 6
rs34767364
NBN
0.701 0.280 8 89971232 missense variant G/A;C snv 2.5E-03 1
rs121434595
NRAS
0.708 0.320 1 114716124 missense variant C/A;G;T snv 13
rs121913409
CTNNB1
0.708 0.400 3 41224646 missense variant C/A;G;T snv 9