rs614008

This is a intron variant variant in the SLC44A4 gene.

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GWAS Catalog Trait Associations (2)

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

vitronectin measurement

Kuliesius J et al. “Efficient candidate drug target discovery through proteogenomics in a Scottish cohort.” Communications Biology 8(1):1300 (2025)

Allele T

OR 0.67

p 7.0e-14

N 199

Small GWAS

European

CMRF35-like molecule 9 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele T

OR 0.03

p 6.0e-12

N 47,745

Large GWAS

European

About SLC44A4

The protein encoded by this gene may be a sodium-dependent transmembrane transport protein involved in the uptake of choline by cholinergic neurons. Defects in this gene can cause sialidosis, a lysosomal storage disease. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]

View all SLC44A4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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