IQCB1, IQ motif containing B1, 9657

N. diseases: 69; N. variants: 24
Disease: Leber Congenital Amaurosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907009
rs387907009
Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1
CUI: C0339527
Disease:
Leber Congenital Amaurosis 		A 0.700 CausalMutation CLINVAR Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome. 21220633 2011
dbSNP: rs750962965
rs750962965
Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1
CUI: C0339527
Disease:
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
dbSNP: rs1553722736
rs1553722736
Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1
CUI: C0339527
Disease:
Leber Congenital Amaurosis 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs201405662
rs201405662
Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1
CUI: C0339527
Disease:
Leber Congenital Amaurosis 		A 0.700 GeneticVariation CLINVAR