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: rs281865225
rs281865225
BEST1 ; LOC107984334
0.925 0.080 11 61955745 missense variant G/A;T snv
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		0.700 1.000 18 1998 2011
dbSNP: rs281865225
rs281865225
BEST1 ; LOC107984334
0.925 0.080 11 61955745 missense variant G/A;T snv
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.700 0