rs2074356

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

12

Position

112207597

Gene

HECTD4

is a	snp
is	mentioned by
dbSNP	rs2074356
dbSNP (classic)	rs2074356
ClinGen	rs2074356
ebi	rs2074356
HLI	rs2074356
Exac	rs2074356
Gnomad	rs2074356
Varsome	rs2074356
LitVar	rs2074356
Map	rs2074356
PheGenI	rs2074356
Biobank	rs2074356
1000 genomes	rs2074356
hgdp	rs2074356
ensembl	rs2074356
geneview	rs2074356
scholar	rs2074356
google	rs2074356
pharmgkb	rs2074356
gwascentral	rs2074356
openSNP	rs2074356
23andMe	rs2074356
SNPshot	rs2074356
SNPdbe	rs2074356
MSV3d	rs2074356
GWAS Ctlg	rs2074356

GMAF

0.04316

Max Magnitude

2.2

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

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 25671072] 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 25008389] HPV seropositivity joints with susceptibility loci identified in GWASs at apoptosis associated genes to increase the risk of Esophageal Squamous Cell Carcinoma (ESCC)

[PMID 32722627] Interactions of Habitual Coffee Consumption by Genetic Polymorphisms with the Risk of Prediabetes and Type 2 Diabetes Combined.