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: rs281865223
rs281865223
BEST1 ; LOC107984334
0.925 0.080 11 61955742 missense variant C/A;T snv 6.9E-06
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		0.710 1.000 19 1998 2018
dbSNP: rs281865223
rs281865223
BEST1 ; LOC107984334
0.925 0.080 11 61955742 missense variant C/A;T snv 6.9E-06
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.010 1.000 1 2018 2018