rs3115672

This variant is located in the MSH5 gene.

▶

GWAS Catalog Trait Associations (5)

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

depressive symptom measurement

Baselmans BML et al. “Multivariate genome-wide analyses of the well-being spectrum.” Nature Genetics 51(3):445-451 (2019)
Allele T
OR 0.01
p 2.0e-15
N 1,067,913
Large GWAS
European

neuroticism measurement

Baselmans BML et al. “Multivariate genome-wide analyses of the well-being spectrum.” Nature Genetics 51(3):445-451 (2019)
Allele T
OR 0.02
p 6.0e-15
N 523,783
Large GWAS
European

Inguinal hernia

Wei J et al. “Identification of fifty-seven novel loci for abdominal wall hernia development and their biological and clinical implications: results from the UK Biobank.” Hernia : the Journal of Hernias and Abdominal Wall Surgery 26(1):335-348 (2022)
Allele C
OR 1.11
p 1.0e-9
N 275,546
Major Consortium StudyLarge GWAS
European

wellbeing measurement

Baselmans BML et al. “Multivariate genome-wide analyses of the well-being spectrum.” Nature Genetics 51(3):445-451 (2019)
Allele T
OR 0.02
p 5.0e-14
N 80,852
Large GWAS
European
▶

ClinVar annotation

Benign★☆☆☆
1 submitter1 publication

not specified

View on ClinVar →

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]

View all MSH5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…