rs707938

This variant is located in the MSH5 gene.

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GWAS Catalog Trait Associations (4)

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

age at menopause

Day FR et al. “Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair.” Nature Genetics 47(11):1294-1303 (2015)

Allele G

OR 0.17

p 7.0e-15

N 69,626

Large GWAS

European

age at menarche

Horikoshi M et al. “Elucidating the genetic architecture of reproductive ageing in the Japanese population.” Nature Communications 9(1):1977 (2018)

Allele A

OR 0.19

p 1.0e-12

N 67,029

Large GWAS

multi-ancestry

cognitive function measurement

Lee JJ et al. “Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.” Nature Genetics 50(8):1112-1121 (2018)

Allele A

OR 0.02

p 4.0e-9

N 257,841

Large GWAS

European

cognitive function measurement, self reported educational attainment

Demange PA et al. “Investigating the genetic architecture of noncognitive skills using GWAS-by-subtraction.” Nature Genetics 53(1):35-44 (2021)

Allele A

OR 0.04

p 5.0e-9

N 257,700

Large GWAS

European

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ClinVar annotation

Benign★☆☆☆

1 submitter1 publication

not specified

View on ClinVar →

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Research that mentions this SNP (1)

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Genetic Susceptibility to Cancer

Meta-analysisN=3,551Linda M. Dong et al.(2008)· JAMA

A systematic review and meta-analysis of 161 published meta-analyses evaluating 344 gene-variant/cancer associations across 99 genes and 18 cancer sites. The authors calculated false-positive report probability (FPRP) values to evaluate the robustness of statistically significant findings (p<0.05). The most noteworthy associations at very low prior probability were GSTM1 null with bladder cancer (OR: 1.5, p=1.9×10-14), NAT2 slow acetylator with bladder cancer (OR: 1.46, p=2.5×10-7), MTHFR C677T with gastric cancer (OR: 1.52, p=4.9×10-8), and GSTM1 null with acute leukemia (OR: 1.20, p=8.6×10-15). Phase II metabolizing enzymes, particularly GSTM1 deletion, showed the most consistent and highly significant associations with cancer risk.

Traits studied:Bladder cancerBreast cancerCervical cancerColorectal cancerEsophageal cancerGastric cancerGliomaHead and neck cancerHepatocellular carcinomaLeukemia (acute)Lung cancerMeningiomaNon-Hodgkin lymphomaOvarian cancerProstate cancerSkin cancer (non-melanoma)Upper digestive tract cancerUrothelial cancer

PubMed DOI Metascience Observatory

About MSH5

This gene encodes a member of the mutS family of proteins that are involved in DNA mismatch repair and meiotic recombination. This protein is similar to a Saccharomyces cerevisiae protein that participates in segregation fidelity and crossing-over events during meiosis. This protein plays a role in promoting ionizing radiation-induced apoptosis. This protein forms hetero-oligomers with another member of this family, mutS homolog 4. Polymorphisms in this gene have been linked to various human diseases, including IgA deficiency, common variable immunodeficiency, and premature ovarian failure. Alternative splicing results multiple transcript variants. Read-through transcription also exists between this gene and the downstream chromosome 6 open reading frame 26 (C6orf26) gene. [provided by RefSeq, Feb 2011]

rs707938

GWAS Catalog Trait Associations (4)

age at menopause

age at menarche

cognitive function measurement

cognitive function measurement, self reported educational attainment

ClinVar annotation

Research that mentions this SNP (1)

About MSH5

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