BEST1, bestrophin 1, 7439

N. diseases: 292; N. variants: 152
Disease: Vitelliform Macular Dystrophy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199508634
rs199508634
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
CUI: C0339510
Disease:
Vitelliform Macular Dystrophy 		0.010 GeneticVariation BEFREE Twelve different variants, two of which (p.S7N and p.P346H) were novel, were identified in the 13 Japanese families with BVMD. 26201355 2015