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: rs761129859
rs761129859
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
dbSNP: rs761357250
rs761357250
Entrez Id: 22926
Gene Symbol: ATF6
ATF6
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
dbSNP: rs796065053
rs796065053
Entrez Id: 22926
Gene Symbol: ATF6
ATF6
CUI: C0152200
Disease:
Achromatopsia 		A 0.700 CausalMutation CLINVAR Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. 26029869 2015
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
dbSNP: rs797045171
rs797045171
Entrez Id: 22926
Gene Symbol: ATF6
ATF6
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
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
dbSNP: rs797045173
rs797045173
Entrez Id: 22926
Gene Symbol: ATF6
ATF6
CUI: C0152200
Disease:
Achromatopsia 		TC 0.700 CausalMutation CLINVAR Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. 26029869 2015
dbSNP: rs797045174
rs797045174
Entrez Id: 22926
Gene Symbol: ATF6
ATF6
CUI: C0152200
Disease:
Achromatopsia 		TA 0.700 CausalMutation CLINVAR Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. 26029869 2015
dbSNP: rs1553227755
rs1553227755
Entrez Id: 22926
Gene Symbol: ATF6
ATF6
CUI: C0152200
Disease:
Achromatopsia 		AG 0.700 CausalMutation CLINVAR
dbSNP: rs765383904
rs765383904
Entrez Id: 22926
Gene Symbol: ATF6
ATF6
CUI: C0152200
Disease:
Achromatopsia 		CT 0.700 GeneticVariation CLINVAR