Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1126809
rs1126809
TYR ; LOC107984363
29 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 0.010 1.000 1 1997 1997
dbSNP: rs1376096651
rs1376096651
MITF
3 0.882 0.280 3 69964977 missense variant A/G;T snv 0.010 1.000 1 1997 1997