Source: CLINVAR ×
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: rs1559751245
rs1559751245
MITF
6 0.882 0.280 3 69959280 missense variant C/G snv 0.700 0
dbSNP: rs28940877
rs28940877
TYR ; LOC107984363
9 0.807 0.200 11 89178218 missense variant T/C snv 4.0E-06 2.1E-05 0.700 0
dbSNP: rs28940881
rs28940881
TYR ; LOC107984363
16 0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05 0.700 0
dbSNP: rs376823382
rs376823382
TYR ; LOC107984363
8 0.827 0.200 11 89284940 missense variant A/G snv 1.9E-04 2.2E-04 0.700 0
dbSNP: rs587777893
rs587777893
MTOR
67 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 0
dbSNP: rs879255280
rs879255280
SMO
15 0.701 0.200 7 129206557 missense variant C/T snv 0.700 0