Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs750962965
rs750962965
IQCB1
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		G 0.700 CausalMutation CLINVAR Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. 15723066

2005