rs4712972
This variant is located 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.
hemoglobin measurement
Timoteo VJ et al. “Common and ethnic-specific genetic determinants of hemoglobin concentration between Taiwanese Han Chinese and European Whites: findings from comparative two-stage genome-wide association studies.” The Journal of Nutritional Biochemistry 111:109126 (2023)
Allele A
OR —
β 0.054
p 3.0e-25
N 46,904
Large GWAS
European
body mass index
Hawkes G et al. “Genetic evidence that high BMI in childhood has a protective effect on intermediate diabetes traits, including measures of insulin sensitivity and secretion, after accounting for BMI in adulthood.” Diabetologia 66(8):1472-1480 (2023)
Allele A
OR 0.02
p 2.0e-10
N 441,761
Large GWAS
European
health trait
Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele A
OR 0.01
p 1.0e-9
N 405,979
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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