rs2286639
This variant is located in the SLC6A7 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.
mitochondrial heteroplasmy measurement
Nandakumar P et al. “Nuclear genome-wide associations with mitochondrial heteroplasmy.” Science Advances 7(12) (2021)
Allele G
OR 0.01
p 1.0e-8
N 982,072
Large GWAS
European
About SLC6A7
This gene is a member of the gamma-aminobutyric acid (GABA) neurotransmitter gene family and encodes a high-affinity mammalian brain L-proline transporter protein. This transporter protein differs from other sodium-dependent plasma membrane carriers by its pharmacological specificity, kinetic properties, and ionic requirements. [provided by RefSeq, Jul 2008]
View all SLC6A7 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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