C1QTNF6, C1q and TNF related 6, 114904

N. diseases: 33; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs229527
rs229527
Entrez Id: 114904
Gene Symbol: C1QTNF6
C1QTNF6
CUI: C0018213
Disease:
Graves Disease 		0.810 GeneticVariation BEFREE We found both the rs229527 allele within C1QTNF6 (odds ratio [OR] = 1.23, confidence interval [95% CI]: 1.12-1.33, p<sub>Allelic</sub> = 4.60 × 10<sup>-6</sup>) and the rs2284038 allele within RAC2 (OR = 1.10, 95% CI: 1.01-0.19, p<sub>Allelic</sub> = 3.00 × 10<sup>-2</sup>) showed significant associations with GD susceptibility. 28665696 2017
dbSNP: rs229541
rs229541
Entrez Id: 114904
Gene Symbol: C1QTNF6
C1QTNF6
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent 		0.810 GeneticVariation BEFREE The most significant association was with two T1D SNPs, rs12150079 (ZPBP2/ORMDL3/GSDMB region) (enterovirus frequency: AA 7.3%, AG 8.7%, GG 9.7%, RR = 0.86, overall p = 1.87E-02) and rs229541 (C1QTNF6/SSTR3/RAC2) (enterovirus frequency: CC 7.8%, CT 9.7%, TT 9.4%, RR = 1.13, overall p = 3.6E-02), followed by TLR8 (rs2407992) (p = 3.8E-02), TLR3 (1914926) (p = 4.9E-02), and two other T1D SNPs (IFIH1 rs3747517, p = 4.9E-02 and PTPN22, rs2476601, p = 5.3E-02). 26485223 2015
dbSNP: rs229527
rs229527
Entrez Id: 114904
Gene Symbol: C1QTNF6
C1QTNF6
CUI: C0018213
Disease:
Graves Disease 		0.810 GeneticVariation GWASCAT Robust evidence for five new Graves' disease risk loci from a staged genome-wide association analysis. 23612905 2013
dbSNP: rs229527
rs229527
Entrez Id: 114904
Gene Symbol: C1QTNF6
C1QTNF6
CUI: C0018213
Disease:
Graves Disease 		0.810 GeneticVariation GWASDB Robust evidence for five new Graves' disease risk loci from a staged genome-wide association analysis. 23612905 2013
dbSNP: rs229541
rs229541
Entrez Id: 114904
Gene Symbol: C1QTNF6
C1QTNF6
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent 		0.810 GeneticVariation GWASCAT Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. 19430480 2009
dbSNP: rs229541
rs229541
Entrez Id: 114904
Gene Symbol: C1QTNF6
C1QTNF6
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent 		0.810 GeneticVariation GWASDB Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. 19430480 2009
dbSNP: rs229541
rs229541
Entrez Id: 114904
Gene Symbol: C1QTNF6
C1QTNF6
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent 		T 0.810 GeneticVariation GWASCAT Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. 18978792 2008
dbSNP: rs229541
rs229541
Entrez Id: 114904
Gene Symbol: C1QTNF6
C1QTNF6
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent 		T 0.810 GeneticVariation GWASDB Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. 18978792 2008
dbSNP: rs229527
rs229527
Entrez Id: 114904
Gene Symbol: C1QTNF6
C1QTNF6
CUI: C0042900
Disease:
Vitiligo 		A 0.800 GeneticVariation GWASCAT Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants. 27723757 2016
dbSNP: rs229527
rs229527
Entrez Id: 114904
Gene Symbol: C1QTNF6
C1QTNF6
CUI: C0042900
Disease:
Vitiligo 		0.800 GeneticVariation GWASDB Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo. 22561518 2012
dbSNP: rs229527
rs229527
Entrez Id: 114904
Gene Symbol: C1QTNF6
C1QTNF6
CUI: C0042900
Disease:
Vitiligo 		0.800 GeneticVariation GWASDB Genome-wide analysis identifies a quantitative trait locus in the MHC class II region associated with generalized vitiligo age of onset. 21326295 2011
dbSNP: rs229527
rs229527
Entrez Id: 114904
Gene Symbol: C1QTNF6
C1QTNF6
CUI: C0042900
Disease:
Vitiligo 		T 0.800 GeneticVariation GWASDB Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo. 20410501 2010
dbSNP: rs229527
rs229527
Entrez Id: 114904
Gene Symbol: C1QTNF6
C1QTNF6
CUI: C0042900
Disease:
Vitiligo 		T 0.800 GeneticVariation GWASCAT Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo. 20410501 2010
dbSNP: rs229540
rs229540
Entrez Id: 114904
Gene Symbol: C1QTNF6
C1QTNF6
CUI: C0020676
Disease:
Hypothyroidism 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs229541
rs229541
Entrez Id: 114904
Gene Symbol: C1QTNF6
C1QTNF6
CUI: C4310768
Disease:
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs229541
rs229541
Entrez Id: 114904
Gene Symbol: C1QTNF6
C1QTNF6
CUI: C3150797
Disease:
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs229541
rs229541
Entrez Id: 114904
Gene Symbol: C1QTNF6
C1QTNF6
CUI: C4014795
Disease:
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs229541
rs229541
Entrez Id: 114904
Gene Symbol: C1QTNF6
C1QTNF6
CUI: C0004364
Disease:
Autoimmune Diseases 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs229541
rs229541
Entrez Id: 114904
Gene Symbol: C1QTNF6
C1QTNF6
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		T 0.700 GeneticVariation GWASCAT Transancestral mapping and genetic load in systemic lupus erythematosus. 28714469 2017
dbSNP: rs229533
rs229533
Entrez Id: 114904
Gene Symbol: C1QTNF6
C1QTNF6
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent 		C 0.700 GeneticVariation GWASCAT Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers. 25751624 2015
dbSNP: rs229526
rs229526
Entrez Id: 114904
Gene Symbol: C1QTNF6
C1QTNF6
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent 		0.700 GeneticVariation GWASDB A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci. 21980299 2011
dbSNP: rs229541
rs229541
Entrez Id: 114904
Gene Symbol: C1QTNF6
C1QTNF6
CUI: C0026769
Disease:
Multiple Sclerosis 		0.700 GeneticVariation GWASDB Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. 22190364 2011
dbSNP: rs229541
rs229541
Entrez Id: 114904
Gene Symbol: C1QTNF6
C1QTNF6
CUI: C0014378
Disease:
Enterovirus Infections 		0.010 GeneticVariation BEFREE The most significant association was with two T1D SNPs, rs12150079 (ZPBP2/ORMDL3/GSDMB region) (enterovirus frequency: AA 7.3%, AG 8.7%, GG 9.7%, RR = 0.86, overall p = 1.87E-02) and rs229541 (C1QTNF6/SSTR3/RAC2) (enterovirus frequency: CC 7.8%, CT 9.7%, TT 9.4%, RR = 1.13, overall p = 3.6E-02), followed by TLR8 (rs2407992) (p = 3.8E-02), TLR3 (1914926) (p = 4.9E-02), and two other T1D SNPs (IFIH1 rs3747517, p = 4.9E-02 and PTPN22, rs2476601, p = 5.3E-02). 26485223 2015