rs72833466
This is a intergenic variant variant in the SP6 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
strand of hair color
Hysi PG et al. “Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability.” Nature Genetics 50(5):652-656 (2018)
Allele A
OR 0.06
p 4.0e-90
N 290,891
Meta-analysisLarge GWAS
European
hair color
Morgan MD et al. “Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.” Nature Communications 9(1):5271 (2018)
Allele A
OR 1.17
p 2.0e-28
N 283,920
Major Consortium StudyLarge GWAS
European
About SP6
SP6 belongs to a family of transcription factors that contain 3 classical zinc finger DNA-binding domains consisting of a zinc atom tetrahedrally coordinated by 2 cysteines and 2 histidines (C2H2 motif). These transcription factors bind to GC-rich sequences and related GT and CACCC boxes (Scohy et al., 2000 [PubMed 11087666]).[supplied by OMIM, Mar 2008]
View all SP6 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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