Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs104894226
LRRC56 ; HRAS
0.658 0.560 11 534285 missense variant C/A;G;T snv 23
rs121908120
WNT10A
0.701 0.280 2 218890289 missense variant T/A snv 1.4E-02 1.4E-02 7
rs879253799
DCAF17
0.882 0.320 2 171443559 frameshift variant A/- delins 5
rs201249971
LIPH
0.776 0.120 3 185519292 missense variant A/T snv 1.6E-04 4.9E-05 3
rs587781245
SASH1
0.882 0.120 6 148533885 missense variant G/A snv 6.8E-05 7.0E-05 3
rs1057517491
GJB2
0.776 0.240 13 20189448 frameshift variant C/- delins 2
rs72561723
GJB2
0.790 0.240 13 20189448 missense variant C/T snv 8.0E-06 2
rs6457452
HSPA1B
0.851 0.200 6 31827773 5 prime UTR variant C/G;T snv 8.5E-05; 9.3E-02; 1.4E-05 1
rs12203592
IRF4
0.649 0.320 6 396321 intron variant C/T snv 0.10 1
rs267607477
KRT74
0.925 0.080 12 52567115 missense variant C/T snv 1
rs201868115
LIPH
0.882 0.080 3 185519286 missense variant G/T snv 9.5E-05 2.8E-05 1
rs199473704
TRPV3
0.882 0.080 17 3524224 missense variant C/A;T snv 1
rs121909800
VDR
0.807 0.360 12 47844859 missense variant G/A;T snv 1