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rs2074356

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
(C;T) 1.5 1.5x increased risk for esophageal squamous cell cancer in Han Chinese
(T;T) 2.2 2.2x increased risk for esophageal squamous cell cancer in Han Chinese
ReferenceGRCh38 38.1/141
Chromosome12
Position112207597
GeneHECTD4
is asnp
is mentioned by
dbSNPrs2074356
ebirs2074356
HLIrs2074356
Exacrs2074356
Varsomers2074356
Maprs2074356
PheGenIrs2074356
hapmaprs2074356
1000 genomesrs2074356
hgdprs2074356
ensemblrs2074356
gopubmedrs2074356
geneviewrs2074356
scholarrs2074356
googlers2074356
pharmgkbrs2074356
gwascentralrs2074356
openSNPrs2074356
23andMers2074356
23andMe allrs2074356
SNP Nexus

SNPshotrs2074356
SNPdbers2074356
MSV3drs2074356
GWAS Ctlgrs2074356
GMAF0.04316
Max Magnitude2.2
rs2074356 is a SNP in an uncharacterized locus on ch 12 known as the chromosome 12 open reading frame 51 C12orf51.

In a GWAS study of 8,000+ Han Chinese patients with esophageal squamous cell cancer, each rs2074356(T) allele was associated with an increased risk (odds ratio 1.56, CI:1.45 - 1.68) for the disease. This SNP was also part of a risk panel with additional SNPs, for which see genosets gs244 and gs245, and the risk was also reported to be higher in tobacco and alcohol users.[PMID 21642993]

? (C;C) (C;T) (T;T) 28
10.1038/ng.357 Korean waist-hip ratio rs2074356 (P = 7.8 times 10-12)
GWAS snp
PMID [PMID 19396169]
Trait Biomedical quantitative traits
Title A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits
Risk Allele T
P-val 8E-12
Odds Ratio 0.01 [0.004-0.008] decrease
GWAS snp
PMID [PMID 21270382]
Trait
Title Genome-wide association studies identify genetic loci related to alcohol consumption in Korean men
Risk Allele T
P-val 9E-59
Odds Ratio 1.0600 [0.94-1.18] unit decrease
GWAS snp
PMID [PMID 21642993]
Trait
Title Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations.
Risk Allele T
P-val 2E-31
Odds Ratio 1.5600 [1.45-1.68]
GWAS snp
PMID [PMID 21909109]
Trait
Title Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
Risk Allele T
P-val 7E-37
Odds Ratio 0.0350 [0.030-0.040] mg/dL decrease

Esophageal Cancer: Preliminary Research

GWAS snp
PMID [PMID 22797727]
Trait Renal function-related traits (BUN)
Title Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
Risk Allele A
P-val 2E-9
Odds Ratio .01 [0.0042-0.0086] mg/dl increase
GWAS snp
PMID [PMID 23575436]
Trait Glycemic traits
Title New susceptibility loci in MYL2, C12orf51 and OAS1 associated with 1-h plasma glucose as predisposing risk factors for type 2 diabetes in the Korean population.
Risk Allele T
P-val 6E-14
Odds Ratio .06 [0.045-0.077] mmol-1 decrease


[PMID 25671072OA-icon.png] Sex-specific differences in the association of a common aldehyde dehydrogenase 2 gene polymorphism and alcohol consumption with stroke risk in a Korean population: a prospective cohort study


[PMID 25008389OA-icon.png] HPV seropositivity joints with susceptibility loci identified in GWASs at apoptosis associated genes to increase the risk of Esophageal Squamous Cell Carcinoma (ESCC)