Rs1050152

Orientation

plus

is a	snp
is	mentioned by
dbSNP	rs1050152
PheGenI	rs1050152
nextbio	rs1050152
hapmap	rs1050152
1000 genomes	rs1050152
hgdp	rs1050152
ensembl	rs1050152
gopubmed	rs1050152
geneview	rs1050152
scholar	rs1050152
google	rs1050152
pharmgkb	rs1050152
gwascentral	rs1050152
openSNP	rs1050152
23andMe	rs1050152
23andMe all	rs1050152
SNP Nexus
SNPshot	rs1050152
SNPdbe	rs1050152
MSV3d	rs1050152

Gene	MIR4750, SLC22A4

Chromosome

5

Orientation

plus

GMAF

0.1845

Position

131676320

Reference

GRCh37.p5 37.3/137

Max Magnitude

2.1

Geno	Mag	Summary
(C;C)	0	normal
(C;T)	2	2.1x increased risk of Crohn's disease
(T;T)	2.1	2.1x increased risk of Crohn's disease

?	(C;C) (C;T) (T;T)	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 = 1.31–3.39, 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]

[PMID 21061378] Two independent genetic factors responsible for the associations of the IBD5 locus with Crohn's disease in the Czech population

[PMID 21122496] OCTN1 variant L503F is associated with familial and sporadic inflammatory bowel disease

OMIM	604190
Desc
Variant	0002
Related	also

[PMID 21674708] Two independent genetic factors responsible for the associations of the IBD5 locus with Crohn's disease in the Czech population

[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 22606245] Evolutionary Dynamics of Co-Segregating Gene Clusters Associated with Complex Diseases

ClinVar
Risk	rs1050152(T;T)
Normal	rs1050152(C;C)
Significance	2
Disease
ClinVar	info, info
Gene	SLC22A4, LOC553103
CLNDBN
Reversed	0
CLNHGVS	NC_000005.9:g.131676320C>T
CLNSRC

[PMID 15843420] DLG5 variants do not influence susceptibility to inflammatory bowel disease in the Scottish population.

[PMID 15955786] Polymorphisms in the DLG5 and OCTN cation transporter genes in Crohn's disease.

[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 18064451] IL4 in the 5q31 context: association studies of type 1 diabetes and rheumatoid arthritis in the Spanish population.

[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 19141711] Functional genetic variation in the basal promoter of the organic cation/carnitine transporters OCTN1 (SLC22A4) and OCTN2 (SLC22A5).

GET Evidence
SLC22A4-L503F
aa_change	Leu503Phe
aa_change_short	L503F
impact	pharmacogenetic
qualified_impact	Insufficiently evaluated pharmacogenetic
overall_frequency	0.303588
summary

[PMID 23474282] Expression Quantitative Trait Loci Analysis Identifies Associations Between Genotype and Gene Expression in Human Intestine