rs496250

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GWAS Catalog Trait Associations (1)

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

Mastocytosis

Nedoszytko B et al. “Results from a Genome-Wide Association Study (GWAS) in Mastocytosis Reveal New Gene Polymorphisms Associated with WHO Subgroups.” International Journal of Molecular Sciences 21(15) (2020)
Allele T
OR 1.93
p 3.0e-8
N 5,840
Large GWAS
European
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Research that mentions this SNP (1)

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Allelic variants in HTR3C show association with autism
AssociationN=356Karola Rehnström et al.(2009)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

A family-based association study of 97 Finnish families with autistic disorder tested 125 SNPs in 11 candidate genes at 3q25-27, a linkage region for autism. Two nonsynonymous SNPs in HTR3C (rs6766410, N163K and rs6807362, G405A) showed significant association (P = 0.0012), with the C-C haplotype overtransmitted to affected individuals (P = 0.006). The study proposes HTR3C as a novel candidate gene for autism spectrum disorders.

Traits studied:Autism spectrum disordersAutistic disorder
PubMedDOIMetascience Observatory

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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