Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs569826109
rs569826109
T 0.700 GeneticVariation CLINVAR A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration. 18978954

2008

dbSNP: rs121909398
rs121909398
A 0.700 CausalMutation CLINVAR Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26). 14681825

2004

dbSNP: rs1553512879
rs1553512879
C 0.700 GeneticVariation CLINVAR

dbSNP: rs201186440
rs201186440
A 0.700 GeneticVariation CLINVAR

dbSNP: rs750151209
rs750151209
C 0.700 GeneticVariation CLINVAR