Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918165
rs121918165
LCA5
A 0.700 CausalMutation CLINVAR Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 25356970

2015
dbSNP: rs121918165
rs121918165
LCA5
A 0.700 CausalMutation CLINVAR Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations. 23946133

2013
dbSNP: rs121918165
rs121918165
LCA5
A 0.700 CausalMutation CLINVAR Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice. 21606596

2011
dbSNP: rs121918165
rs121918165
LCA5
A 0.700 CausalMutation CLINVAR Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: retained photoreceptors adjacent to retinal disorganization. 19503738

2009
dbSNP: rs121918165
rs121918165
LCA5
A 0.700 CausalMutation CLINVAR Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. 17546029

2007
dbSNP: rs386834252
rs386834252
LCA5 ; LOC100506851
T 0.700 CausalMutation CLINVAR

dbSNP: rs386834253
rs386834253
LCA5 ; LOC100506851
GT 0.700 CausalMutation CLINVAR