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: rs793888540
rs793888540
TFAP2A ; TFAP2A-AS2
9 0.851 0.080 6 10404623 missense variant G/T snv 0.700 1.000 1 2015 2015
dbSNP: rs1114167422
rs1114167422
DKC1 ; SNORA56
11 0.776 0.320 X 154773148 missense variant A/G snv 0.700 0
dbSNP: rs1559751245
rs1559751245
MITF
6 0.882 0.280 3 69959280 missense variant C/G snv 0.700 0
dbSNP: rs1561416879
rs1561416879
ADGRV1
6 0.925 0.200 5 90629308 stop gained C/G snv 0.700 0