rs72842437

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

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GWAS Catalog Trait Associations (1)

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

level of MHC class I polypeptide-related sequence A in blood, level of MHC class I polypeptide-related sequence B in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele C

OR 0.40

p 2.0e-21

N 47,745

Large GWAS

European

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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