rs10463316
This is a coding sequence variant variant in the SLC36A1 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.
pyroglutamine measurement
▶Research that mentions this SNP (1)
▶Genome‐Wide Association Study of a Heart Failure Related Metabolomic Profile Among African Americans in the Atherosclerosis Risk in Communities (ARIC) StudyAssociationN=1,260Bing Yu et al.(2013)· Genetic Epidemiology
Genome-wide association study (GWAS) of three heart failure-related metabolites in 1,260 African Americans from the ARIC study. Identified a significant association at rs10463316 (p=1.92×10⁻¹⁰) on chromosome 5q33 near SLC36A2 for pyroglutamine, and rs13538 (p=1.71×10⁻²³, F143S missense variant in NAT8) on chromosome 2p13 for X-11787 metabolite. A genetic risk score (GRS) combining the three top SNPs showed significant association with incident heart failure (HR=1.11, 95% CI: 1.02-1.22, p=0.019) over 22 years of follow-up, suggesting these metabolites mediate genetic effects on HF risk.
About SLC36A1
This gene encodes a member of the eukaryote-specific amino acid/auxin permease (AAAP) 1 transporter family. The encoded protein functions as a proton-dependent, small amino acid transporter. This gene is clustered with related family members on chromosome 5q33.1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
View all SLC36A1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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