rs365132
This is a synonymous variant in the UIMC1 gene — it does not change the protein's amino acid sequence.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
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 0.24
p 1.0e-33
N 69,626
Large GWAS
European
Stolk L et al. “Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.” Nature Genetics 44(3):260-8 (2012)
Allele G
OR 0.29
p 9.0e-32
N 38,968
Large GWAS
European
He C et al. “Genome-wide association studies identify loci associated with age at menarche and age at natural menopause.” Nature Genetics 41(6):724-8 (2009)
Allele G
OR 0.39
p 8.0e-14
N 17,438
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 G
OR 0.19
p 9.0e-13
N 67,029
Large GWAS
multi-ancestry
▶ClinVar annotation
About UIMC1
This gene encodes a nuclear protein that interacts with Brca1 (breast cancer 1) in a complex to recognize and repair DNA lesions. This protein binds ubiquitinated lysine 63 of histone H2A and H2AX. This protein may also function as a repressor of transcription. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
View all UIMC1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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