rs186749

This is a intron variant variant in the PRDM6 gene.

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GWAS Catalog Trait Associations (2)

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

alopecia

Hagenaars SP et al. “Genetic prediction of male pattern baldness.” Plos Genetics 13(2):e1006594 (2017)

Allele G

OR —

β 0.042

p 5.0e-11

N 52,874

Large GWAS

European

mammographic density percentage, mammographic density measurement

Lindström S et al. “Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.” Nature Communications 5:5303 (2014)

Allele A

OR 0.10

p 3.0e-9

N 7,916

Large GWAS

multi-ancestry

About PRDM6

The protein encoded by this gene is a transcriptional repressor and a member of the PRDM family. Family members contain a PR domain and multiple zinc-finger domains. The encoded protein is involved in regulation of vascular smooth muscle cells (VSMC) contractile proteins. Mutations in this gene result in patent ductus arteriosus 3 (PDA3). [provided by RefSeq, Apr 2017]

View all PRDM6 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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