Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs761357250
rs761357250
ATF6
0.800 GeneticVariation UNIPROT Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. 26029869

2015
dbSNP: rs761357250
rs761357250
ATF6
0.800 GeneticVariation UNIPROT Mutation of ATF6 causes autosomal recessive achromatopsia. 26063662

2015
dbSNP: rs761357250
rs761357250
ATF6
T 0.800 CausalMutation CLINVAR Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. 26029869

2015