Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs281865258
rs281865258
0.925 0.080 11 61959528 missense variant G/A snv
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy
0.710 1.000 19 1998 2019
dbSNP: rs281865258
rs281865258
0.925 0.080 11 61959528 missense variant G/A snv
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.010 1.000 1 2019 2019