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: rs281865238
rs281865238
BEST1 ; LOC107984334
0.851 0.080 11 61957402 missense variant C/A;T snv
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		0.800 1.000 20 1998 2019
dbSNP: rs281865238
rs281865238
BEST1 ; LOC107984334
0.851 0.080 11 61957402 missense variant C/A;T snv
CUI: C2750789
Disease: RETINITIS PIGMENTOSA, CONCENTRIC (disorder)
RETINITIS PIGMENTOSA, CONCENTRIC (disorder) 		0.700 0
dbSNP: rs281865238
rs281865238
BEST1 ; LOC107984334
0.851 0.080 11 61957402 missense variant C/A;T snv
CUI: C3888099
Disease: Autosomal dominant vitreoretinochoroidopathy
Autosomal dominant vitreoretinochoroidopathy 		0.700 0
dbSNP: rs281865238
rs281865238
BEST1 ; LOC107984334
0.851 0.080 11 61957402 missense variant C/A;T snv
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.700 0