rs192461268
This is a intron variant variant in the KCNT2 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.
complement factor H-related protein 2 measurement
Cipriani V et al. “Beyond factor H: The impact of genetic-risk variants for age-related macular degeneration on circulating factor-H-like 1 and factor-H-related protein concentrations.” American Journal of Human Genetics 108(8):1385-1400 (2021)
Allele A
OR 3.39
p 2.0e-8
N 252
Small GWAS
European
About KCNT2
Enables chloride-activated potassium channel activity and intracellular sodium-activated potassium channel activity. Involved in potassium ion export across plasma membrane. Located in plasma membrane. Implicated in developmental and epileptic encephalopathy 57. [provided by Alliance of Genome Resources, Jul 2025]
View all KCNT2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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