rs73404118
This variant is located in the SLC44A4 gene.
▶GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
level of ferritin, mitochondrial in blood serum
Surapaneni A et al. “Identification of 969 protein quantitative trait loci in an African American population with kidney disease attributed to hypertension.” Kidney International 102(5):1167-1177 (2022)
Allele C
OR 1.44
p 7.0e-33
N 466
Small GWAS
African American or Afro-Caribbean
level of sialidase-1 in blood serum
Surapaneni A et al. “Identification of 969 protein quantitative trait loci in an African American population with kidney disease attributed to hypertension.” Kidney International 102(5):1167-1177 (2022)
Allele C
OR 1.27
p 1.0e-24
N 466
Small GWAS
African American or Afro-Caribbean
level of folate receptor alpha in blood serum
Surapaneni A et al. “Identification of 969 protein quantitative trait loci in an African American population with kidney disease attributed to hypertension.” Kidney International 102(5):1167-1177 (2022)
Allele C
OR 0.99
p 2.0e-14
N 466
Small GWAS
African American or Afro-Caribbean
level of calsequestrin-1 in blood serum
Surapaneni A et al. “Identification of 969 protein quantitative trait loci in an African American population with kidney disease attributed to hypertension.” Kidney International 102(5):1167-1177 (2022)
Allele C
OR 0.97
p 5.0e-14
N 466
Small GWAS
African American or Afro-Caribbean
level of tapasin in blood serum
Surapaneni A et al. “Identification of 969 protein quantitative trait loci in an African American population with kidney disease attributed to hypertension.” Kidney International 102(5):1167-1177 (2022)
Allele C
OR 0.96
p 1.0e-13
N 466
Small GWAS
African American or Afro-Caribbean
interleukin-36 alpha measurement
Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)
Allele C
OR 0.89
p 8.0e-12
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)
▶ClinVar annotation
Benign★☆☆☆
1 submitterAbout 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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