Rs2242330
From SNPedia
| Orientation | minus |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2242330 |
| PheGenI | rs2242330 |
| nextbio | rs2242330 |
| hapmap | rs2242330 |
| 1000 genomes | rs2242330 |
| hgdp | rs2242330 |
| ensembl | rs2242330 |
| gopubmed | rs2242330 |
| geneview | rs2242330 |
| scholar | rs2242330 |
| rs2242330 | |
| pharmgkb | rs2242330 |
| gwascentral | rs2242330 |
| openSNP | rs2242330 |
| 23andMe | rs2242330 |
| 23andMe all | rs2242330 |
| SNP Nexus | |
| SNPshot | rs2242330 |
| SNPdbe | rs2242330 |
| MSV3d | rs2242330 |
| Gene | STAP1 |
| Chromosome | 4 |
| Orientation | minus |
| GMAF | 0.2019 |
| Position | 68447249 |
| Reference | GRCh37 37.1/131 |
| Max Magnitude |
| Make rs2242330(C;C) |
| Make rs2242330(C;T) |
| Make rs2242330(T;T) |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
| GWAS | |
|---|---|
| SNP | rs2242330 |
| PubMedID | [PMID 17052657] |
| Condition | Parkinson's disease |
| Gene | BRDG1 |
| Risk Allele | |
| pValue | 2.00E-006 |
| OR | 2 |
| 95% CI | 1.43-2.50 |
[PMID 20369022] Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations.
| GET Evidence | |
|---|---|
| rs2242330 | |
| aa_change | |
| aa_change_short | |
| impact | pathogenic |
| qualified_impact | Insufficiently evaluated pathogenic |
| overall_frequency | 0.210938 |
| summary | |
