rs80308281
This is a protein-altering variant in the SLC12A9 gene.
▶GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (4)
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 C
OR 0.61
p 4.0e-36
N 455,164
Large 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 C
OR 1.70
p 2.0e-34
N 323,317
Major Consortium StudyLarge GWAS
European
retinal vasculature measurement
Zekavat SM et al. “Deep Learning of the Retina Enables Phenome- and Genome-Wide Analyses of the Microvasculature.” Circulation 145(2):134-150 (2022)
Allele C
OR 0.28
p 4.0e-11
N 38,932
Large GWAS
European
eye color
Simcoe M et al. “Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color.” Science Advances 7(11) (2021)
Allele T
OR 5.45
p 5.0e-8
N 157,485
Large GWAS
multi-ancestry
About SLC12A9
Predicted to enable potassium:chloride symporter activity. Predicted to be involved in several processes, including chloride ion homeostasis; chloride transmembrane transport; and potassium ion homeostasis. Located in extracellular exosome. [provided by Alliance of Genome Resources, Jul 2025]
View all SLC12A9 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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