Disease: BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs751069999
rs751069999
Entrez Id: 285440
Gene Symbol: CYP4V2
CYP4V2
CUI: C1859486
Disease:
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY 		0.010 GeneticVariation BEFREE The novel CYP4V2 c.219T>A (p.F73L) mutation may be another recurrent mutation in Chinese patients with BCD. 24739949 2014