{{Rsnum
|rsid=1050152
|Gene=SLC22A4
|Chromosome=5
|position=132340627
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.1846
|Gene_s=MIR4750,SLC22A4
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 31.0 | 57.5 | 11.5
| HCB | 100.0 | 0.0 | 0.0
| JPT | 100.0 | 0.0 | 0.0
| YRI | 100.0 | 0.0 | 0.0
| ASW | 80.7 | 19.3 | 0.0
| CHB | 100.0 | 0.0 | 0.0
| CHD | 97.2 | 2.8 | 0.0
| GIH | 80.2 | 18.8 | 1.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 55.2 | 37.9 | 6.9
| MKK | 96.8 | 3.2 | 0.0
| TSI | 43.1 | 43.1 | 13.7
| HapMapRevision=28
}}[[rs1050152]], a SNP in the [[SLC22A4]] gene known as L503F, has been associated with an autoimmune disease, in this case, [[Crohn's disease]], odds ratio = 2.1 (CI = 1.31â€“3.39, p = 0.002), based on a study of 203 cases and 200 controls. The risk allele is [[rs1050152]](T).{{PMID|15107849}}

A nearby SNP ([[rs2631367]]) in the promoter region of the [[SLC22A5]] gene defines a haplotype along with [[rs3792876]], 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}}

{{PharmGKB
|RSID=rs1050152
|Name_s=SLC22A4: L305F
|Gene_s=SLC22A4
|Feature=Exon/NonSyn
|Evidence=PubMed ID:19940846
|Annotation=Higher gabapentin exposure and lower renal clearance/tubular secretion in individuals carrying this variant
|Drugs=gabapentin
|Drug Classes=
|Diseases=
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA165111611
}}

{{PharmGKB
|RSID=rs1050152
|Name_s=SLC22A4: L503F
|Gene_s=SLC22A4
|Feature=Exon/NonSyn
|Evidence=PubMed ID:19940846
|Annotation=altered substrate specificity in transfected cells
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA165111571
}}
{{PMID Auto
|PMID=21061378
|Title=Two independent genetic factors responsible for the associations of the IBD5 locus with Crohn's disease in the Czech population
}}
{{PMID Auto
|PMID=21122496
|Title=OCTN1 variant L503F is associated with familial and sporadic inflammatory bowel disease
}}

{{omim
|id=604190
|rsnum=1050152
|variant=0002
}}

{{PMID Auto
|PMID=21674708
|Title=Two independent genetic factors responsible for the associations of the IBD5 locus with Crohn's disease in the Czech population
}}

{{PMID Auto
|PMID=21695374
|Title=Haplotype in the IBD5 region is associated with refractory Crohn's disease in Slovenian patients and modulates expression of the SLC22A5 gene
}}

{{PMID Auto
|PMID=22606245
|Title=Evolutionary Dynamics of Co-Segregating Gene Clusters Associated with Complex Diseases
|OA=1
}}

{{ClinVar
|rsid=1050152
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=131676320
|CHROM=5
|GMAF=0.1845
|dbSNPBuildID=86
|SSR=0
|SAO=1
|VP=0x05017800000015051f110100
|GENEINFO=SLC22A4:6583; LOC553103:553103
|GENE_NAME=SLC22A4; LOC553103
|GENE_ID=6583; 553103
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000005.9:g.131676320C>T
|CLNORIGIN=1
|CLNSIG=2
|Tags=PM;TPA;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.8154; 0.1846
|CLNACC=RCV000006106.1
|CLNDBN=SLC22A4 POLYMORPHISM
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=604190.0002
|COMMON=1
|Disease=SLC22A4 POLYMORPHISM
}}

{{PMID Auto
|PMID=15843420
|Title=DLG5 variants do not influence susceptibility to inflammatory bowel disease in the Scottish population.
|OA=1
}}

{{PMID Auto
|PMID=15955786
|Title=Polymorphisms in the DLG5 and OCTN cation transporter genes in Crohn's disease.
|OA=1
}}

{{PMID Auto
|PMID=16796743
|Title=Evidence for the association of the SLC22A4 and SLC22A5 genes with type 1 diabetes: a case control study.
|OA=1
}}

{{PMID Auto
|PMID=17667713
|Title=Analysis of candidate genes on chromosomes 5q and 19p in celiac disease.
}}

{{PMID Auto
|PMID=17786191
|Title=rs1004819 is the main disease-associated IL23R variant in German Crohn's disease patients: combined analysis of IL23R, CARD15, and OCTN1/2 variants.
|OA=1
}}

{{PMID Auto
|PMID=18064451
|Title=IL4 in the 5q31 context: association studies of type 1 diabetes and rheumatoid arthritis in the Spanish population.
}}

{{PMID Auto
|PMID=18698678
|Title=Replication of interleukin 23 receptor and autophagy-related 16-like 1 association in adult- and pediatric-onset inflammatory bowel disease in Italy.
|OA=1
}}

{{PMID Auto
|PMID=18715515
|Title=Lack of evidence for association of primary sclerosing cholangitis and primary biliary cirrhosis with risk alleles for Crohn's disease in Polish patients.
|OA=1
}}

{{PMID Auto
|PMID=18756601
|Title=OCTN and CARD15 gene polymorphism in Chinese patients with inflammatory bowel disease.
|OA=1
}}

{{PMID Auto
|PMID=19141711
|Title=Functional genetic variation in the basal promoter of the organic cation/carnitine transporters OCTN1 (SLC22A4) and OCTN2 (SLC22A5).
|OA=1
}}

{{GET Evidence
|gene=SLC22A4
|aa_change=Leu503Phe
|aa_change_short=L503F
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1050152
|overall_frequency_n=3266
|overall_frequency_d=10758
|overall_frequency=0.303588
|n_genomes=14
|n_genomes_annotated=0
|n_haplomes=16
|n_articles=1
|n_articles_annotated=1
|in_omim=Y
|in_pharmgkb=Y
|nblosum100=0
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=23474282
|Title=Expression Quantitative Trait Loci Analysis Identifies Associations Between Genotype and Gene Expression in Human Intestine
}}

{{PMID Auto
|PMID=23127916
|Title=Polymorphisms in OCTN1 and OCTN2 transporters genes are associated with prolonged time to progression in unresectable gastrointestinal stromal tumours treated with imatinib therapy
}}

{{PMID Auto
|PMID=24415875
|Title=Susceptibility to ulcerative colitis in Hungarian patients determined by gene-gene interactions
|OA=1
}}

{{PMID Auto
|PMID=22875622
|Title=Association between imatinib transporters and metabolizing enzymes genotype and response in newly diagnosed chronic myeloid leukemia patients receiving imatinib therapy.
|OA=1
}}

{{PMID Auto
|PMID=22957492
|Title=Pathway analysis of a genome-wide association study of ileal Crohn's disease.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}