BEST1, bestrophin 1, 7439

N. diseases: 292; N. variants: 152
Disease: Vitelliform Macular Dystrophy ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1805142
rs1805142 		0.851 0.080 11 61955825 stop gained G/C;T snv 2.7E-05
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.710 1.000 1 2001 2001