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: rs121918288
rs121918288
BEST1
0.925 0.080 11 61951928 missense variant T/C snv 2.0E-05 7.0E-06
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.800 1.000 6 2008 2015
dbSNP: rs121918288
rs121918288
BEST1
0.925 0.080 11 61951928 missense variant T/C snv 2.0E-05 7.0E-06
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		0.700 1.000 18 1998 2011