rs145962792

This variant is located in the DRC4 gene.

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GWAS Catalog Trait Associations (1)

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

strand of hair color

Jiang L et al. “A generalized linear mixed model association tool for biobank-scale data.” Nature Genetics 53(11):1616-1621 (2021)

Allele G

OR 2.93

p 5.0e-138

N 455,164

Large GWAS

European

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ClinVar annotation

Likely Benign★★★☆

3 submitters2 publications

Primary ciliary dyskinesia 33; GAS8-related disorder; not provided

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About DRC4

This gene includes 11 exons spanning 25 kb and maps to a region of chromosome 16 that is sometimes deleted in breast and prostrate cancer. The second intron contains an apparently intronless gene, C16orf3, that is transcribed in the opposite orientation. This gene is a putative tumor suppressor gene. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]

View all DRC4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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