rs17785991

This is a regulatory region variant variant in the SLC9A8 gene.

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GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

amyotrophic lateral sclerosis

van Rheenen W et al. “Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.” Nature Genetics 53(12):1636-1648 (2021)

Allele A

OR 0.07

p 3.0e-10

N 152,268

Large GWAS

multi-ancestry

multiple sclerosis

Beecham AH et al. “Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.” Nature Genetics 45(11):1353-60 (2013)

Allele A

OR 1.07

p 4.0e-8

N 38,589

Large GWAS

European

About SLC9A8

Sodium-hydrogen exchangers (NHEs), such as SLC9A8, are integral transmembrane proteins that exchange extracellular Na+ for intracellular H+. NHEs have multiple functions, including intracellular pH homeostasis, cell volume regulation, and electroneutral NaCl absorption in epithelia (Xu et al., 2008 [PubMed 18209477]).[supplied by OMIM, Apr 2009]

View all SLC9A8 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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