rs9934405

This is a intron variant variant in the SLC12A4 gene.

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GWAS Catalog Trait Associations (2)

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

total cholesterol measurement

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele C

OR 0.03

p 4.0e-22

N 570,549

Major Consortium StudyLarge GWAS

multi-ancestry

high density lipoprotein cholesterol measurement

Lee SB et al. “Dyslipidaemia-Genotype Interactions with Nutrient Intake and Cerebro-Cardiovascular Disease.” Biomedicines 10(7) (2022)

Allele A

OR 0.74

p 2.0e-13

N 58,701

Large GWAS

East Asian

About SLC12A4

This gene encodes a member of the SLC12A transporter family. The encoded protein mediates the coupled movement of potassium and chloride ions across the plasma membrane. This gene is expressed ubiquitously. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2013]

View all SLC12A4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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