Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894094
CDKN2A
0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06 6
rs104894095
CDKN2A
0.827 0.120 9 21971200 missense variant C/G;T snv 9.0E-06 3
rs104894097
CDKN2A
0.807 0.240 9 21974757 missense variant C/A;G;T snv 1.7E-05; 1.3E-05 7
rs104894098
CDKN2A
0.851 0.200 9 21970982 missense variant A/T snv 4
rs104894099
CDKN2A
0.851 0.200 9 21971183 missense variant A/C;T snv 4.6E-06 4
rs104894104
CDKN2A
0.790 0.160 9 21971019 missense variant G/A;T snv 4
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
rs104894340
CDK4
0.827 0.200 12 57751647 missense variant C/A;T snv 5
rs1057519695
NRAS
0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 1
rs1057519702
KIT
1.000 0.040 4 54726020 missense variant T/C snv 1
rs1057519703
KIT
1.000 0.040 4 54727418 missense variant A/C;T snv 1
rs1057519704
KIT
0.882 0.080 4 54727425 missense variant T/A snv 2
rs1057519705
KIT
1.000 0.040 4 54727464 missense variant A/G snv 1
rs1057519706
KIT
1.000 0.040 4 54727474 missense variant T/G snv 1
rs1057519708
KIT
1.000 0.040 4 54728096 missense variant T/A;G snv 2
rs1057519710
KIT
0.695 0.280 4 54733166 missense variant G/C;T snv 1
rs1057519713
KIT
0.925 0.120 4 54736498 missense variant G/C snv 2
rs1057519718
BRAF
0.925 0.160 7 140753355 missense variant CA/TC mnv 1
rs1057519720
BRAF
0.851 0.080 7 140781602 missense variant CC/AA;GA mnv 2
rs1057519728
MAP2K1
0.851 0.120 15 66435103 missense variant T/A;C;G snv 5
rs1057519729
MAP2K1
0.827 0.080 15 66435113 missense variant A/C snv 2
rs1057519730
MAP2K1
1.000 0.040 15 66436786 missense variant T/A;G snv 2
rs1057519731
MAP2K1
0.925 0.040 15 66436816 missense variant G/C snv 2
rs1057519732
MAP2K1
0.827 0.160 15 66436824 missense variant C/A;T snv 6