rs2252281
This is a regulatory region variant variant in the SLC47A1 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
glomerular filtration rate
Wuttke M et al. “A catalog of genetic loci associated with kidney function from analyses of a million individuals.” Nature Genetics 51(6):957-972 (2019)
Allele T
OR 0.00
p 5.0e-40
N 567,460
Large GWAS
European
Hellwege JN et al. “Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.” Nature Communications 10(1):3842 (2019)
Allele T
OR 0.00
p 5.0e-25
N 280,722
Major Consortium StudyLarge GWAS
multi-ancestry
About SLC47A1
This gene is located within the Smith-Magenis syndrome region on chromosome 17. It encodes a protein of unknown function. [provided by RefSeq, Jul 2008]
View all SLC47A1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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