rs3853818

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GWAS Catalog Trait Associations (1)

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

Moyamoya disease

Jeon JP et al. “Genome-wide association study identifies novel susceptibilities to adult moyamoya disease.” Journal of Human Genetics 68(10):713-720 (2023)
Allele C
OR 5.19
p 3.0e-8
N 512
Small GWAS
East Asian
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Research that mentions this SNP (1)

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No evidence for association between 19 cholinergic genes and bipolar disorder
AssociationN=557Jiajun Shi et al.(2007)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This association study screened 93 SNPs in 19 cholinergic genes (CHAT, CHRM1-5, CHRNA1-7, CHRNA9-10, CHRNB1-4) in two bipolar disorder (BD) pedigree series: NIMH Genetics Initiative (474 samples, 152 families) and Clinical Neurogenetics (83 samples, 22 families). Sib-TDT analysis showed nominally significant association for four SNPs (CHRNA2 rs7017417 P=0.024, CHRNA5 rs514743 P=0.031, CHRNB1 rs2302762 P=0.049, CHRNB4 rs1948 P=0.031), but none reached gene-wide significance after multiple testing correction. The authors conclude that these 19 cholinergic genes are unlikely to play a major role in BD predisposition in these pedigrees.

Traits studied:Alcohol dependenceBipolar disorderSchizoaffective disorder bipolar type
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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