rs16932455

This is a upstream gene 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.

mean corpuscular hemoglobin concentration

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)

Allele A

OR 0.03

p 2.0e-13

N 119,629

Large GWAS

East Asian

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ClinVar annotation

Benign★☆☆☆

1 submitter

View on ClinVar →

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Research that mentions this SNP (1)

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Identification of novel germline polymorphisms governing capecitabine sensitivity

AssociationN=503O'Donnell PH et al.(2012)· Cancer

A genome-wide association study of capecitabine sensitivity in 503 HapMap lymphoblastoid cell lines identified novel germline variants associated with capecitabine/5-FU susceptibility. Key findings include rs4702484 (P=5.2×10⁻⁸) in ADCY2 near MTRR, and rs11722476 (P=6.7×10⁻⁵), a missense variant in SMARCAD1 (Ser158Asn). Meta-analysis across six global populations identified four SNPs approaching genome-wide significance (P=1.9×10⁻⁷–8.8×10⁻⁷), with rs8101143 (P=1.9×10⁻⁷), rs576523 (P=2.3×10⁻⁷), and rs361433 also among top hits.

Traits studied:5-fluorouracil sensitivityCancer chemotherapy response and toxicityCapecitabine sensitivityCapecitabine-induced cytotoxicity

PubMed DOI Metascience Observatory

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]