Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 42
rs104894228
LRRC56 ; HRAS
0.605 0.560 11 534286 missense variant C/A;G;T snv 30
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs121918457
PTPN11
0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 18
rs137852814
SOS1
0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06 16
rs121909218
PTEN
0.672 0.360 10 87933145 missense variant G/A snv 14
rs121434595
NRAS
0.708 0.320 1 114716124 missense variant C/A;G;T snv 13
rs121913338
BRAF
0.677 0.400 7 140753354 missense variant T/A;C;G snv 12
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 12
rs121913294
PTEN
0.776 0.280 10 87952143 missense variant G/A;C;T snv 8.0E-06 11
rs398123316
PTEN
0.851 0.160 10 87925530 missense variant A/G;T snv 8
rs1085308039
PTEN
0.925 0.080 10 87933075 stop gained G/T snv 6
rs121913535
KRAS
0.742 0.320 12 25245348 missense variant C/A;G;T snv 5
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 2
rs12913832
HERC2
0.763 0.200 15 28120472 intron variant A/G snv 0.50 1
rs12203592
IRF4
0.649 0.320 6 396321 intron variant C/T snv 0.10 1
rs1805006
MC1R
0.790 0.080 16 89919510 missense variant C/A;G snv 5.2E-03; 4.0E-06 1
rs121913254
NRAS
0.658 0.440 1 114713909 stop gained G/A;C;T snv 1