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: rs1805142
rs1805142
Entrez Id: 7439;107984334
Gene Symbol: BEST1;LOC107984334
BEST1;LOC107984334
CUI: C0339510
Disease:
Vitelliform Macular Dystrophy 		0.710 GeneticVariation BEFREE These included a man with confluent drusen and retinal pigment epithelial detachments (variant in exon 6; T216I), a man with geographic atrophy and numerous soft drusen (variant in exon 10; L567F), a woman with drusen and retinal pigment epithelial alterations (variant in exon 10; L567F), a woman with drusen and retinal pigment epithelial alterations resembling bull's-eye maculopathy (variant in exon 4; E119Q), and a woman diagnosed with adult-onset foveomacular vitelliform dystrophy (variant in exon 4; A146K). 11713080 2001
dbSNP: rs1805142
rs1805142
Entrez Id: 7439;107984334
Gene Symbol: BEST1;LOC107984334
BEST1;LOC107984334
CUI: C0339510
Disease:
Vitelliform Macular Dystrophy 		C 0.710 CausalMutation CLINVAR