rs10498633
This is a intron variant variant in the SLC24A4 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.
Alzheimer disease
▶Research that mentions this SNP (1)
▶F‐box/
LRR
‐repeat protein 7 is genetically associated with Alzheimer's diseaseAssociationN=5,300Giuseppe Tosto et al.(2015)· Annals of Clinical and Translational Neurology
A genome-wide association study of 4,514 unrelated Caribbean Hispanics identified a novel locus rs75002042 in FBXL7 associated with late-onset Alzheimer's disease (OR=0.61, p=6.19E-09), confirmed in an expanded cohort of 5,300 subjects (OR=0.63, p=4.7E-08). The study also identified rs7431992 in CACNA2D3 (OR=1.59, p=1.99E-08) and replicated six previously known LOAD loci.
About SLC24A4
This gene encodes a sodium/potassium/calcium exchange protein. The encoded antiporter transports one calcium and one potassium ion in exchange for four sodium ions and has been implicated in amelogenesis and enamel maturation. Certain variants in this gene have been associated with skin, hair, and eye pigmentation, while other variants have been identified in people with hypomaturation-type amelogenesis imperfecta. [provided by RefSeq, Nov 2023]
View all SLC24A4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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