rs2288904
This is a protein-altering variant in the SLC44A2 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.
venous thromboembolism
Klarin D et al. “Genome-wide association analysis of venous thromboembolism identifies new risk loci and genetic overlap with arterial vascular disease.” Nature Genetics 51(11):1574-1579 (2019)
Allele G
OR 1.12
p 4.0e-24
N 650,119
Large GWAS
multi-ancestry
Germain M et al. “Meta-analysis of 65,734 individuals identifies TSPAN15 and SLC44A2 as two susceptibility loci for venous thromboembolism.” American Journal of Human Genetics 96(4):532-42 (2015)
Allele G
OR 1.21
p 3.0e-15
N 60,139
Meta-analysisLarge GWAS
European
deep vein thrombosis
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 A
OR 0.13
p 5.0e-19
N 623,167
Major Consortium StudyLarge GWAS
multi-ancestry
body height
Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele A
OR 0.02
p 2.0e-15
N 455,180
Large GWAS
Hispanic or Latin American
multiple sclerosis
Beecham AH et al. “Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.” Nature Genetics 45(11):1353-60 (2013)
Allele G
OR 1.10
p 2.0e-11
N 38,589
Large GWAS
European
About SLC44A2
Enables choline transmembrane transporter activity and ethanolamine transmembrane transporter activity. Involved in choline transport; ethanolamine transport; and transmembrane transport. Located in mitochondrial outer membrane and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]
View all SLC44A2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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