Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893848
rs104893848
0.700 GeneticVariation UNIPROT Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays. 18055821

2007

dbSNP: rs104893848
rs104893848
0.700 GeneticVariation UNIPROT Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis. 17011878

2006

dbSNP: rs104893848
rs104893848
0.700 GeneticVariation UNIPROT Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy. 11381255

2001

dbSNP: rs1560870755
rs1560870755
C 0.700 CausalMutation CLINVAR