Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553722736
rs1553722736
IQCB1
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs201405662
rs201405662
IQCB1
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs387907009
rs387907009
IQCB1
CUI: C0339527
Disease: Leber Congenital Amaurosis
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
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