Rs2250417
From SNPedia
| Orientation | minus |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2250417 |
| PheGenI | rs2250417 |
| nextbio | rs2250417 |
| hapmap | rs2250417 |
| 1000 genomes | rs2250417 |
| hgdp | rs2250417 |
| ensembl | rs2250417 |
| gopubmed | rs2250417 |
| geneview | rs2250417 |
| scholar | rs2250417 |
| rs2250417 | |
| pharmgkb | rs2250417 |
| gwascentral | rs2250417 |
| openSNP | rs2250417 |
| 23andMe | rs2250417 |
| 23andMe all | rs2250417 |
| SNP Nexus | |
| SNPshot | rs2250417 |
| SNPdbe | rs2250417 |
| MSV3d | rs2250417 |
| Gene | BCO2 |
| Chromosome | 11 |
| Orientation | minus |
| GMAF | 0.3411 |
| Position | 112085316 |
| Reference | GRCh37 37.1/131 |
| Max Magnitude |
| Make rs2250417(A;A) |
| Make rs2250417(A;G) |
| Make rs2250417(G;G) |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
[PMID 18464913] Interleukin 18 (IL18) protein levels
| GWAS | |
|---|---|
| SNP | rs2250417 |
| PubMedID | [PMID 18464913] |
| Condition | Protein quantitative trait loci |
| Gene | IL18 |
| Risk Allele | A |
| pValue | 7.00E-013 |
| OR | NA |
| 95% CI | |
[PMID 18853133] Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes.
[PMID 19468064] Parasites represent a major selective force for interleukin genes and shape the genetic predisposition to autoimmune conditions.
| GET Evidence | |
|---|---|
| rs2250417 | |
| aa_change | |
| aa_change_short | |
| impact | pathogenic |
| qualified_impact | Insufficiently evaluated pathogenic |
| overall_frequency | 0.335938 |
| summary | |
