rs2296804
This variant is located in the GNMT gene.
▶GWAS Catalog Trait Associations (8)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (8)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
phospholipids in small HDL measurement
high density lipoprotein cholesterol measurement
total lipids in medium HDL measurement
esterified cholesterol measurement, high density lipoprotein cholesterol measurement
phospholipids in medium HDL measurement
total cholesterol measurement, high density lipoprotein cholesterol measurement
low density lipoprotein cholesterol measurement, phospholipids:total lipids ratio
polyunsaturated fatty acid measurement
▶ClinVar annotation
not provided; Hepatocellular carcinoma; Familial cancer of breast
View on ClinVar →About GNMT
The protein encoded by this gene is an enzyme that catalyzes the conversion of S-adenosyl-L-methionine (along with glycine) to S-adenosyl-L-homocysteine and sarcosine. This protein is found in the cytoplasm and acts as a homotetramer. Defects in this gene are a cause of GNMT deficiency (hypermethioninemia). Alternative splicing results in multiple transcript variants. Naturally occurring readthrough transcription occurs between the upstream CNPY3 (canopy FGF signaling regulator 3) gene and this gene and is represented with GeneID:107080644. [provided by RefSeq, Jan 2016]
View all GNMT variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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