rs4698412

This is a downstream gene variant variant in the BST1 gene.

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GWAS Catalog Trait Associations (2)

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

Parkinson disease

Kim JJ et al. “Multi-ancestry genome-wide association meta-analysis of Parkinson's disease.” Nature Genetics 56(1):27-36 (2024)
Allele A
OR —
p 6.0e-33
N 2,525,730
Meta-analysisLarge GWAS
multi-ancestry
Nalls MA et al. “Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies.” The Lancet. Neurology 18(12):1091-1102 (2019)
Allele A
OR 0.10
p 2.0e-28
N 482,730
Meta-analysisLarge GWAS
European
Pan H et al. “Genome-wide association study using whole-genome sequencing identifies risk loci for Parkinson's disease in Chinese population.” Npj Parkinson's Disease 9(1):22 (2023)
Allele A
OR 0.15
p 1.0e-13
N 4,450
Large GWAS
East Asian

age of onset of Parkinson disease

Grover S et al. “Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease: Evidence From the COURAGE-PD Consortium.” Neurology 99(7):e698-e710 (2022)
Allele A
OR 0.53
p 4.0e-8
N 25,950
Meta-analysisMajor Consortium StudyLarge GWAS
multi-ancestry
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Research that mentions this SNP (2)

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Meta‐analysis of Parkinson's Disease: Identification of a novel locus, RIT2
Meta-analysisN=14,326Nathan Pankratz et al.(2012)· Annals of Neurology

Meta-analysis of five Parkinson disease GWAS studies (4,238 cases, 4,239 controls) identifying a novel susceptibility locus at RIT2 (rs12456492, OR=1.19, p=2×10⁻¹⁰). Multiple independent associations detected at SNCA (rs356220, rs356198), GBA (E326K and N370S variants), and other loci including GAK/DGKQ, MAPT, and HLA region. Results replicated in 3,738 cases and 2,111 controls.

Traits studied:Parkinson disease
PubMedDOIMetascience Observatory
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Association of GWAS loci with PD in China
AssociationN=1,146Xue‐Li Chang et al.(2011)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Case-control study of 636 Parkinson's disease patients and 510 controls from mainland China investigating SNPs at four genome-wide association study loci. SNCA (rs894278, OR=1.33) and LRRK2 (rs2046932, OR=1.98) variants increased PD risk, while PARK16 variants (rs823156, OR=0.73; rs6532194, OR=0.60) reduced risk. BST1 SNPs showed no significant association.

Traits studied:Parkinson's disease
PubMedDOIMetascience Observatory

About BST1

Bone marrow stromal cell antigen-1 is a stromal cell line-derived glycosylphosphatidylinositol-anchored molecule that facilitates pre-B-cell growth. The deduced amino acid sequence exhibits 33% similarity with CD38. BST1 expression is enhanced in bone marrow stromal cell lines derived from patients with rheumatoid arthritis. The polyclonal B-cell abnormalities in rheumatoid arthritis may be, at least in part, attributed to BST1 overexpression in the stromal cell population. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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