rs117911387
This variant is located in the STXBP1 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
comparative body size at age 10, self-reported
Richardson TG et al. “Use of genetic variation to separate the effects of early and later life adiposity on disease risk: mendelian randomisation study.” Bmj (clinical Research Ed.) 369:m1203 (2020)
Allele G
OR 0.02
p 2.0e-13
N 453,169
Large GWAS
European
cigarettes per day measurement
Saunders GRB et al. “Genetic diversity fuels gene discovery for tobacco and alcohol use.” Nature 612(7941):720-724 (2022)
Allele A
OR 0.03
p 4.0e-11
N 618,489
Large GWAS
European
body mass index
Hawkes G et al. “Genetic evidence that high BMI in childhood has a protective effect on intermediate diabetes traits, including measures of insulin sensitivity and secretion, after accounting for BMI in adulthood.” Diabetologia 66(8):1472-1480 (2023)
Allele G
OR 0.03
p 7.0e-11
N 441,761
Large GWAS
European
▶ClinVar annotation
Likely Benign★★★☆
2 submitters1 publicationAbout STXBP1
This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with infantile epileptic encephalopathy-4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
View all STXBP1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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