rs17342717
This is a intron variant variant in the SLC17A1 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
iron biomarker measurement, ferritin measurement
Oexle K et al. “Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels.” Human Molecular Genetics 20(5):1042-7 (2011)
Allele T
OR 0.09
p 9.0e-10
N 6,616
Large GWAS
European
ferritin measurement
Pichler I et al. “Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels.” Human Molecular Genetics 20(6):1232-40 (2011)
Allele C
OR 36.50
p 5.0e-9
N 5,633
Large GWAS
European
mean corpuscular hemoglobin
Kullo IJ et al. “A genome-wide association study of red blood cell traits using the electronic medical record.” Plos One 5(9) (2010)
Allele T
OR 0.38
p 5.0e-8
N 3,012
Large GWAS
European
About SLC17A1
Predicted to enable transmembrane transporter activity. Involved in sodium-dependent phosphate transport; urate metabolic process; and urate transport. Located in apical plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]
View all SLC17A1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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