rs2291652

This is a protein-altering variant in the MUC4 gene.

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GWAS Catalog Trait Associations (2)

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

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)

Allele A

OR 0.00

p 7.0e-14

N 5,314,291

Large GWAS

European, Hispanic or Latin American, East Asian, African unspecified, South Asian

glomerular filtration rate

Graham SE et al. “Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.” Nature Communications 10(1):1847 (2019)

Allele G

OR 5.58

p 2.0e-8

N 350,514

Meta-analysisLarge GWAS

multi-ancestry

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Research that mentions this SNP (1)

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Mucin gene polymorphisms are associated with endometriosis in Korean women

AssociationN=56Jin-Ho Kim et al.(2020)· Archives of Gynecology and Obstetrics

This case-control study examined the association between MUC1 and MUC4 gene polymorphisms and endometriosis risk in 29 Korean women with endometriosis and 27 controls. Individual SNPs in MUC1 and MUC4 were not significantly associated with endometriosis, but a MUC4 triple haplotype (rs2291653/rs2291654/rs375068067 with T/T/C genotype) showed significant association with increased endometriosis risk (p=0.010, OR 9.435, 95% CI 0.442-201.3).

Traits studied:Endometriosis

PubMed DOI Metascience Observatory

About MUC4

The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008]