rs2631372
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Make rs2631372(C;C) |
| Make rs2631372(C;G) |
| Make rs2631372(G;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 5 |
| Position | 132367886 |
| Gene | LOC553103, SLC22A5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2631372 |
| dbSNP (classic) | rs2631372 |
| ClinGen | rs2631372 |
| ebi | rs2631372 |
| HLI | rs2631372 |
| Exac | rs2631372 |
| Gnomad | rs2631372 |
| Varsome | rs2631372 |
| LitVar | rs2631372 |
| Map | rs2631372 |
| PheGenI | rs2631372 |
| Biobank | rs2631372 |
| 1000 genomes | rs2631372 |
| hgdp | rs2631372 |
| ensembl | rs2631372 |
| geneview | rs2631372 |
| scholar | rs2631372 |
| rs2631372 | |
| pharmgkb | rs2631372 |
| gwascentral | rs2631372 |
| openSNP | rs2631372 |
| 23andMe | rs2631372 |
| SNPshot | rs2631372 |
| SNPdbe | rs2631372 |
| MSV3d | rs2631372 |
| GWAS Ctlg | rs2631372 |
| GMAF | 0.2856 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
| Rs2631372 | |
|---|---|
| PubMed | [PMID 17684544 ]
|
| Affy Probeset | SNP_A-1983493 |
| Affy Orientation | reverse |
| On GW 5.0 | 1 |
| Alleles A/B | C/G |
| Ancestral | C |
| Population | EU(German) |
| Allele | C |
| Case Freq. | 0.72 |
| Control Freq. | 0.69 |
| Odds Ratio Het | |
| Odds Ratio Hom | |
| Odds Ratio All | 1.28 |
| Disease | Crohn's disease (CD) |
rs2631372 increases susceptibility to Crohn's disease 1.28 times for carriers of the C allele [PMID 17684544]
[PMID 21695374] Haplotype in the IBD5 region is associated with refractory Crohn's disease in Slovenian patients and modulates expression of the SLC22A5 gene
[PMID 23127916] Polymorphisms in OCTN1 and OCTN2 transporters genes are associated with prolonged time to progression in unresectable gastrointestinal stromal tumours treated with imatinib therapy
