rs4287304

This is a intron variant variant in the SOX6 gene.

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GWAS Catalog Trait Associations (1)

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

cotinine glucuronidation measurement

Patel YM et al. “The contribution of common genetic variation to nicotine and cotinine glucuronidation in multiple ethnic/racial populations.” Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology 24(1):119-27 (2015)
Allele C
OR 0.10
p 3.0e-9
N 2,239
Large GWAS
multi-ancestry

About SOX6

This gene encodes a member of the D subfamily of sex determining region y-related transcription factors that are characterized by a conserved DNA-binding domain termed the high mobility group box and by their ability to bind the minor groove of DNA. The encoded protein is a transcriptional activator that is required for normal development of the central nervous system, chondrogenesis and maintenance of cardiac and skeletal muscle cells. The encoded protein interacts with other family members to cooperatively activate gene expression. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]

View all SOX6 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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