rs117518546
This is a missense variant variant.
▶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.
AQP4-IgG-positive neuromyelitis optica
Zhong X et al. “Whole-exome sequencing reveals the major genetic factors contributing to neuromyelitis optica spectrum disorder in Chinese patients with aquaporin 4-IgG seropositivity.” European Journal of Neurology 28(7):2294-2304 (2021)
Allele T
OR 2.92
p 2.0e-25
N 1,628
Large GWAS
East Asian
This variant is in our database but has no known associations or PRS memberships yet.
Gene information from NCBI Gene. Variant classifications from ClinVar.
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