rs61762319

This variant is located in the MME gene.

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GWAS Catalog Trait Associations (7)

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

endoglin measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.20
p 3.0e-39
N 47,745
Large GWAS
European

level of neprilysin 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 G
OR 0.07
p 1.0e-20
N 47,745
Large GWAS
European

persephin measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.10
p 8.0e-18
N 47,745
Large GWAS
European

blood protein amount

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.11
p 7.0e-17
N 47,745
Large GWAS
European

Alzheimer disease

Bellenguez C et al. “New insights into the genetic etiology of Alzheimer's disease and related dementias.” Nature Genetics 54(4):412-436 (2022)
Allele G
OR 1.16
p 2.0e-11
N 487,511
Large GWAS
European
Dalmasso MC et al. “The first genome-wide association study in the Argentinian and Chilean populations identifies shared genetics with Europeans in Alzheimer's disease.” Alzheimer's & Dementia : the Journal of the Alzheimer's Association 20(2):1298-1308 (2024)
Allele G
OR 1.15
p 2.0e-8
N 488,904
Large GWAS
multi-ancestry

systolic blood pressure

Koskeridis F et al. “Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits.” Nature Communications 15(1):9827 (2024)
Allele G
OR 0.03
p 4.0e-8
N 1,212,859
Large GWAS
European

testosterone measurement

Venkatesh SS et al. “Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum.” Nature Genetics 57(5):1107-1118 (2025)
Allele G
OR 0.05
p 2.0e-9
N 235,096
Large GWAS
European
Ruth KS et al. “Using human genetics to understand the disease impacts of testosterone in men and women.” Nature Medicine 26(2):252-258 (2020)
Allele G
OR 0.05
p 3.0e-8
N 178,782
Large GWAS
European
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ClinVar annotation

Benign★★★☆
6 submitters3 publications

not provided; MME-related disorder; Sarcoma; Uveal melanoma; Hepatocellular carcinoma; Nonpapillary renal cell carcinoma; Cervical cancer; not specified

View on ClinVar →

About MME

The protein encoded by this gene is a type II transmembrane glycoprotein and a common acute lymphocytic leukemia antigen that is an important cell surface marker in the diagnosis of human acute lymphocytic leukemia (ALL). The encoded protein is present on leukemic cells of pre-B phenotype, which represent 85% of cases of ALL. This protein is not restricted to leukemic cells, however, and is found on a variety of normal tissues. The protein is a neutral endopeptidase that cleaves peptides at the amino side of hydrophobic residues and inactivates several peptide hormones including glucagon, enkephalins, substance P, neurotensin, oxytocin, and bradykinin. [provided by RefSeq, Aug 2017]

View all MME variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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