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: rs797045172
rs797045172
Entrez Id: 22926
Gene Symbol: ATF6
ATF6
CUI: C0152200
Disease:
Achromatopsia 		C 0.700 CausalMutation CLINVAR Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. 26029869 2015