Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs760544654
rs760544654
Entrez Id: 23418
Gene Symbol: CRB1
CRB1
CUI: C0339527
Disease:
Leber Congenital Amaurosis
0.010 GeneticVariation BEFREE Of the 2, the p.R1331C CRB1 mutation has not been described before and the p.P1381L variant has been described in 1 patient with Leber congenital amaurosis. 24811962 2014