rs121918288, BEST1

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
32 0.925 0.080 11 61951928 missense variant T/C snv 2.0E-05 7.0E-06 0.800 1.000 6 2008 2015
Vitelliform Macular Dystrophy
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
120 0.925 0.080 11 61951928 missense variant T/C snv 2.0E-05 7.0E-06 0.700 1.000 18 1998 2011