rs2631367
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | Increased risk for Crohn's Disease | |
| (C;G) | Increased risk for Crohn's Disease | |
| (G;G) | 0 | Normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 132369766 |
| Gene | LOC553103, SLC22A5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2631367 |
| dbSNP (classic) | rs2631367 |
| ClinGen | rs2631367 |
| ebi | rs2631367 |
| HLI | rs2631367 |
| Exac | rs2631367 |
| Gnomad | rs2631367 |
| Varsome | rs2631367 |
| LitVar | rs2631367 |
| Map | rs2631367 |
| PheGenI | rs2631367 |
| Biobank | rs2631367 |
| 1000 genomes | rs2631367 |
| hgdp | rs2631367 |
| ensembl | rs2631367 |
| geneview | rs2631367 |
| scholar | rs2631367 |
| rs2631367 | |
| pharmgkb | rs2631367 |
| gwascentral | rs2631367 |
| openSNP | rs2631367 |
| 23andMe | rs2631367 |
| SNPshot | rs2631367 |
| SNPdbe | rs2631367 |
| MSV3d | rs2631367 |
| GWAS Ctlg | rs2631367 |
| GMAF | 0.3196 |
| Max Magnitude | 0 |
rs2631367, a SNP in the promoter region of the SLC22A5 gene, has been associated with an autoimmune disease, in this case, Crohn's disease, odds ratio = 2.1 (CI = 1.31–3.39, p = 0.002), based on a study of 203 cases and 200 controls. The risk allele is the more rare allele, which appears to be rs2631367(C).[Note: this orientation has not been confirmed relative to dbSNP.][PMID 15107849]
A nearby SNP (rs1050152) in the coding region of the SLC22A4 gene defines a haplotype along with rs2631367, with odds ratio reported as similar for either SNP or the haplotype. Referring to the TC risk haplotype, the population risk attributable to heterozygotes was 19%, and for homozygous haplotype carriers, 27%.[PMID 15107849]
[PMID 19141711
] Functional genetic variation in the basal promoter of the organic cation/carnitine transporters OCTN1 (SLC22A4) and OCTN2 (SLC22A5)
[PMID 21061378] Two independent genetic factors responsible for the associations of the IBD5 locus with Crohn's disease in the Czech population
[PMID 21674708] Two independent genetic factors responsible for the associations of the IBD5 locus with Crohn's disease in the Czech population
[PMID 15955786] Polymorphisms in the DLG5 and OCTN cation transporter genes in Crohn's disease.
[PMID 16255050] Evidence for common genetic control in pathways of inflammation for Crohn's disease and psoriatic arthritis.
[PMID 16796743] Evidence for the association of the SLC22A4 and SLC22A5 genes with type 1 diabetes: a case control study.
[PMID 17667713] Analysis of candidate genes on chromosomes 5q and 19p in celiac disease.
[PMID 17786191] rs1004819 is the main disease-associated IL23R variant in German Crohn's disease patients: combined analysis of IL23R, CARD15, and OCTN1/2 variants.
[PMID 18698678] Replication of interleukin 23 receptor and autophagy-related 16-like 1 association in adult- and pediatric-onset inflammatory bowel disease in Italy.
[PMID 18715515] Lack of evidence for association of primary sclerosing cholangitis and primary biliary cirrhosis with risk alleles for Crohn's disease in Polish patients.
[PMID 18756601] OCTN and CARD15 gene polymorphism in Chinese patients with inflammatory bowel disease.
[PMID 19742321] Genetic variation in the proximal promoter of ABC and SLC superfamilies: liver and kidney specific expression and promoter activity predict variation.
[PMID 20444268] Peripheral blood gene expression patterns discriminate among chronic inflammatory diseases and healthy controls and identify novel targets.
[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
[PMID 24415875] Susceptibility to ulcerative colitis in Hungarian patients determined by gene-gene interactions
| ClinVar | |
|---|---|
| Risk | Rs2631367(C;C) |
| Alt | Rs2631367(C;C) |
| Reference | Rs2631367(G;G) |
| Significance | Non-pathogenic |
| Disease | Renal carnitine transport defect |
| Variation | info |
| Gene | LOC553103 SLC22A5 |
| CLNDBN | Renal carnitine transport defect |
| Reversed | 1 |
| HGVS | NC_000005.9:g.131705458C\x3d; NC_000005.9:g.131705458C>G |
| CLNSRC | |
| CLNACC | RCV000022284.2, RCV000265402.1, |
[PMID 26370461] Organic cation/carnitine transporter OCTN2 (SLC22A5) -207C>G (rs2631367) polymorphism is not associated with male infertility
