BEST1, bestrophin 1, 7439

N. diseases: 292; N. variants: 152
Disease: RETINITIS PIGMENTOSA, CONCENTRIC (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606680
rs267606680
Entrez Id: 7439;107984334
Gene Symbol: BEST1;LOC107984334
BEST1;LOC107984334
CUI: C2750789
Disease:
RETINITIS PIGMENTOSA, CONCENTRIC (disorder) 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 22234150 2012
dbSNP: rs267606680
rs267606680
Entrez Id: 7439;107984334
Gene Symbol: BEST1;LOC107984334
BEST1;LOC107984334
CUI: C2750789
Disease:
RETINITIS PIGMENTOSA, CONCENTRIC (disorder) 		C 0.800 CausalMutation CLINVAR