ATF6, activating transcription factor 6, 22926

N. diseases: 179; N. variants: 30
Disease: Achromatopsia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797045170
rs797045170
Entrez Id: 22926;102724329
Gene Symbol: ATF6;LOC102724329
ATF6;LOC102724329
CUI: C0152200
Disease:
Achromatopsia 		T 0.700 CausalMutation CLINVAR Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. 26029869 2015