Variant: rs1280238814

present in Gene: IQCB1 present in Chromosome: 3 Position on Chromosome: 121772620 Alleles of this Variant: G/A

rs1280238814 in IQCB1 gene and Nephronophthisis PMID 25851290 2015 Gene mutation analysis in Iranian children with nephronophthisis: a two-center study.

PMID 20881296 2011 IQCB1 mutations in patients with leber congenital amaurosis.