rs17622208

This is a intron variant variant in the SLC22A5 gene.

▶

GWAS Catalog Trait Associations (22)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

level of cyclin-dependent kinase 4 inhibitor D in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.05
p 6.0e-17
N 47,745
Large GWAS
European

level of protein max in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.05
p 2.0e-16
N 47,745
Large GWAS
European

level of peptidyl-prolyl cis-trans isomerase FKBP5 in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.05
p 3.0e-15
N 47,745
Large GWAS
European

level of aspartate--tRNA ligase, cytoplasmic in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.05
p 3.0e-14
N 47,745
Large GWAS
European

level of DnaJ homolog subfamily B member 1 in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.04
p 3.0e-14
N 47,745
Large GWAS
European

psoriatic arthritis

Soomro M et al. “Comparative Genetic Analysis of Psoriatic Arthritis and Psoriasis for the Discovery of Genetic Risk Factors and Risk Prediction Modeling.” Arthritis & Rheumatology (hoboken, N.j.) 74(9):1535-1543 (2022)
Allele A
OR 1.19
p 6.0e-14
N 26,351
Large GWAS
European

CRK-like protein measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.04
p 8.0e-14
N 47,745
Large GWAS
European
▶

Research that mentions this SNP (4)

▶
Contribution of higher risk genes and European admixture to Crohnʼs disease in African Americans
AssociationN=708Ming-Hsi Wang et al.(2012)· Inflammatory Bowel Diseases

Study of 354 African American Crohn's disease cases and 354 controls examined the contribution of European admixture and major established CD risk genes. Mean European ancestry was similar between cases (20.9%) and controls (20.4%, p=0.58). Significant associations were found with NOD2 carrier status (OR 3.28, p=0.007), ATG16L1 Thr300Ala (p=0.003), IBD5 locus genes SLC22A4 L503F (p=0.05) and SLC22A5 g-207c (p=0.03), and IL23R rs2201841 (p=0.03), but not IRGM variants.

Traits studied:Crohn's disease
PubMedDOIMetascience Observatory
▶
Two independent genetic factors responsible for the associations of the IBD5 locus with Crohnʼs disease in the Czech population
AssociationN=939Ondrej Hradsky et al.(2011)· Inflammatory Bowel Diseases

This case-control study in 469 Czech Crohn's disease (CD) patients and 470 controls examined the IBD5 locus, identifying two independent genetic factors: rs6596075 (OR=0.70, protective allele G, p=0.018 in dominant model) and the haplotype tagged by rs2188962 and IGR2063b_1 (OR=1.38 for IGR2063b_1, p=0.00075 in log-additive model). The study demonstrates that these two genetic factors independently contribute to CD susceptibility at the IBD5 locus.

Traits studied:Crohn's disease
PubMedDOIMetascience Observatory
▶
IGR2096a_1 T and IGR2198a_1 C alleles on IBD5 locus of chromosome 5q31 region confer risk for Crohn’s disease in Hungarian patients
AssociationN=759Lilla Lakner et al.(2009)· International Journal of Colorectal Disease

A case-control study of 217 Crohn's disease, 252 ulcerative colitis, and 290 control patients in Hungary examining associations with IBD5 locus variants. The IGR2096a_1 T allele (rs12521868) and IGR2198a_1 C allele (rs11739135) showed significantly increased frequencies in Crohn's disease (47.2% and 45.9% vs 38.2% and 37.7% in controls, p<0.05) and were independent risk factors (OR=1.748, 95% CI 1.186-2.574 for T allele; OR=1.646, 95% CI 1.119-2.423 for C allele), while SLC22A4 C1672T and SLC22A5 G-207C variants showed no association.

Traits studied:Crohn's diseaseInflammatory bowel diseaseUlcerative colitis
PubMedDOIMetascience Observatory
▶
Contributions of IBD5, IL23R, ATG16L1, and NOD2 to Crohnʼs disease risk in a population-based case-control study: Evidence of gene–gene interactions
AssociationN=646Toshihiko Okazaki et al.(2008)· Inflammatory Bowel Diseases

Population-based case-control study (213 CD cases, 315 controls) examining associations between IBD5, IL23R, ATG16L1, and NOD2 genetic variants and Crohn's disease risk. IL23R rs10889677 showed the strongest association with CD (OR=2.47, 95% CI 1.70-3.57), while rs11209026 and rs7517848 were protective (OR=0.44 and OR=0.62 respectively). ATG16L1 Thr300Ala showed strong association (homozygote OR=2.38). Evidence suggested gene-gene interactions between IBD5 and IL23R loci.

Traits studied:Crohn's diseaseInflammatory bowel diseaseUlcerative colitis
PubMedDOIMetascience Observatory

About SLC22A5

Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is a plasma integral membrane protein which functions both as an organic cation transporter and as a sodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active cellular uptake of carnitine. Mutations in this gene are the cause of systemic primary carnitine deficiency (CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation, and later in life by skeletal myopathy or cardiomyopathy. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]

View all SLC22A5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…