ATF6, activating transcription factor 6, 22926

N. diseases: 179; N. variants: 30
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs761357250
rs761357250
Entrez Id: 22926
Gene Symbol: ATF6
ATF6
CUI: C4225297
Disease:
ACHROMATOPSIA 7 		0.800 GeneticVariation UNIPROT 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: C4225297
Disease:
ACHROMATOPSIA 7 		0.800 GeneticVariation UNIPROT Mutation of ATF6 causes autosomal recessive achromatopsia. 26063662 2015
dbSNP: rs761357250
rs761357250
Entrez Id: 22926
Gene Symbol: ATF6
ATF6
CUI: C4225297
Disease:
ACHROMATOPSIA 7 		T 0.800 CausalMutation CLINVAR Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. 26029869 2015
dbSNP: rs16849542
rs16849542
Entrez Id: 22926
Gene Symbol: ATF6
ATF6
CUI: C0410702
Disease:
Adolescent idiopathic scoliosis 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs16849542
rs16849542
Entrez Id: 22926
Gene Symbol: ATF6
ATF6
CUI: C1837461
Disease:
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs761129859
rs761129859
Entrez Id: 22926
Gene Symbol: ATF6
ATF6
CUI: C4225297
Disease:
ACHROMATOPSIA 7 		C 0.700 CausalMutation CLINVAR Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. 26029869 2015
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: rs796065053
rs796065053
Entrez Id: 22926
Gene Symbol: ATF6
ATF6
CUI: C4225297
Disease:
ACHROMATOPSIA 7 		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: C4225297
Disease:
ACHROMATOPSIA 7 		T 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: rs797045171
rs797045171
Entrez Id: 22926
Gene Symbol: ATF6
ATF6
CUI: C4225297
Disease:
ACHROMATOPSIA 7 		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: rs797045172
rs797045172
Entrez Id: 22926
Gene Symbol: ATF6
ATF6
CUI: C4225297
Disease:
ACHROMATOPSIA 7 		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: C4225297
Disease:
ACHROMATOPSIA 7 		TC 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: C4225297
Disease:
ACHROMATOPSIA 7 		TA 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: rs1006310
rs1006310
Entrez Id: 22926
Gene Symbol: ATF6
ATF6
CUI: C0023508
Disease:
White Blood Cell Count procedure 		0.700 GeneticVariation GWASDB Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT). 21738479 2011
dbSNP: rs1027700
rs1027700
Entrez Id: 22926
Gene Symbol: ATF6
ATF6
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 GeneticVariation GWASDB Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians. 22158537 2011
dbSNP: rs10918137
rs10918137
Entrez Id: 22926
Gene Symbol: ATF6
ATF6
CUI: C0023508
Disease:
White Blood Cell Count procedure 		0.700 GeneticVariation GWASDB Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT). 21738479 2011
dbSNP: rs11576878
rs11576878
Entrez Id: 22926
Gene Symbol: ATF6
ATF6
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 GeneticVariation GWASDB Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians. 22158537 2011
dbSNP: rs11581556
rs11581556
Entrez Id: 22926
Gene Symbol: ATF6
ATF6
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 GeneticVariation GWASDB Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians. 22158537 2011