rs12456492

This variant is located in the RIT2 gene.

▶

GWAS Catalog Trait Associations (1)

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

Parkinson disease

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 4.0e-23
N 482,730
Meta-analysisLarge GWAS
European
Chang D et al. “A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci.” Nature Genetics 49(10):1511-1516 (2017)
Allele A
OR 1.10
p 6.0e-16
N 417,508
Meta-analysisLarge GWAS
European
Smeland OB et al. “Genome-wide Association Analysis of Parkinson's Disease and Schizophrenia Reveals Shared Genetic Architecture and Identifies Novel Risk Loci.” Biological Psychiatry 89(3):227-235 (2021)
Allele A
OR 0.09
p 2.0e-9
N 417,508
Large GWAS
European
Nalls MA et al. “Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.” Nature Genetics 46(9):989-93 (2014)
Allele A
OR 1.11
p 8.0e-12
N 108,990
Meta-analysisLarge GWAS
European
▶

Research that mentions this SNP (1)

▶
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

About RIT2

RIN belongs to the RAS (HRAS; MIM 190020) superfamily of small GTPases (Shao et al., 1999 [PubMed 10545207]).[supplied by OMIM, Mar 2008]

View all RIT2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…