rs76949612

This is a intron variant variant in the MALRD1 gene.

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GWAS Catalog Trait Associations (1)

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

color vision disorder

Nardone GG et al. “Identifying missing pieces in color vision defects: a genome-wide association study in Silk Road populations.” Frontiers in Genetics 14:1161696 (2023)

Allele G

OR 0.28

p 1.0e-8

N 520

Small GWAS

Other

About MALRD1

This gene encodes a conserved protein that features multiple MAM (meprin-A5-protein tyrosine phosphatase mu) and LDLR A2 (low density lipoprotein receptor A2) domains. Expression of this gene is enriched in the small intestine and is upregulated during differentiation of a human cell line that exhibits properties of intestinal epithelial cells. The encoded protein has been shown to modulate production of FGF19 in a human intestinal cell line and may regulate bile acid metabolism in the liver. A synergistic interaction between an allele of this gene and the APOE E4 allele is associated with an elevated risk of Alzheimer's disease in human patients. [provided by RefSeq, Jul 2017]

View all MALRD1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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