rs652888

This is a upstream gene variant variant in the EHMT2 gene.

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GWAS Catalog Trait Associations (3)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

membranous glomerulonephritis

Stanescu HC et al. “Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.” The New England Journal of Medicine 364(7):616-26 (2011)
Allele C
OR 2.71
p 3.0e-46
N 2,894
Large GWAS
European

BMI-adjusted waist-hip ratio

Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele G
OR 0.02
p 3.0e-10
N 219,872
Major Consortium StudyLarge GWAS
European

BMI-adjusted waist circumference

Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele G
OR 0.02
p 1.0e-9
N 219,872
Major Consortium StudyLarge GWAS
European
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Research that mentions this SNP (1)

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Cancer risk in chronic hepatitis B: Do genome-wide association studies hit the mark?
ReviewMarkus Casper et al.(2011)· Hepatology

This review synthesizes genome-wide association studies (GWAS) identifying host genetic factors affecting hepatitis B virus (HBV) infection outcomes. HBV persistence is predominantly associated with HLA genes (HLA-DP, HLA-DQ, HLA-C with OR 0.46-2.31) and immune-related genes including CFB, NOTCH4, CD40, UBE2L3, TCF19, and EHMT2. HBV persistence and hepatitis B vaccine nonresponse share overlapping genetic bases with HLA variants, while genetic risk factors for advanced liver diseases (cirrhosis, hepatocellular carcinoma) are largely distinct.

Traits studied:Chronic hepatitis B infectionHBV-related advanced liver diseaseHepatitis B vaccine nonresponseHepatitis B vaccine responseHepatitis B virus persistenceHepatocellular carcinomaLiver cirrhosis
PubMedDOIMetascience Observatory

About EHMT2

This gene encodes a methyltransferase that methylates lysine residues of histone H3. Methylation of H3 at lysine 9 by this protein results in recruitment of additional epigenetic regulators and repression of transcription. This gene was initially thought to be two different genes, NG36 and G9a, adjacent to each other in the HLA locus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

View all EHMT2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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