Gene: RPE65 ×
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: rs199683808
rs199683808
RPE65
1 1 68448644 missense variant G/A;C snv 1.6E-05 0.700 1.000 1 2008 2008
dbSNP: rs61751276
rs61751276
RPE65
3 0.925 0.080 1 68449890 splice region variant C/T snv 7.6E-05 1.4E-04 0.700 1.000 1 1997 1997