rs6908425

This is a upstream gene variant variant in the CDKAL1 gene.

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GWAS Catalog Trait Associations (2)

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

Crohn's disease

Liu JZ et al. “Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.” Nature Genetics 47(9):979-986 (2015)
Allele C
OR 1.11
p 5.0e-12
N 20,883
Large GWAS
multi-ancestry
Franke A et al. “Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.” Nature Genetics 42(12):1118-25 (2010)
Allele C
OR 1.17
p 1.0e-8
N 21,389
Meta-analysisLarge GWAS
European
Barrett JC et al. “Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.” Nature Genetics 40(8):955-62 (2008)
Allele C
OR 1.21
p 9.0e-10
N 8,059
Large GWAS
European

body mass index

Huang J et al. “Genomics and phenomics of body mass index reveals a complex disease network.” Nature Communications 13(1):7973 (2022)
Allele C
OR 0.01
p 2.0e-9
N 1,122,049
Large GWAS
European
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Research that mentions this SNP (2)

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Genome wide association (GWA) predictors of anti-TNFα therapeutic responsiveness in pediatric inflammatory bowel disease
AssociationN=94Marla C. Dubinsky et al.(2010)· Inflammatory Bowel Diseases

This GWAS of pediatric IBD patients (n=94) tested associations of known IBD susceptibility loci and novel pharmacogenetic variants with response to anti-TNF α therapy. Non-response occurred in 22 patients (23%). The final predictive model combined UC diagnosis, pANCA positivity, three pharmacogenetic GWAS loci (rs975664 in TACR1 [OR 26.5], rs4855535 in FAM19A4 [OR 10.8], rs6100556 in PHACTR3 [OR 13.8]), and the known susceptibility SNP rs2836878 in BRWD1 (OR 8.0), achieving R²=0.82 and AUC=0.98. The relative risk of non-response increased 15-fold when patients carried ≥3 risk factors.

Traits studied:Anti-TNF α therapeutic responseCrohn's DiseaseInflammatory Bowel Disease (IBD)Ulcerative Colitis
PubMedDOIMetascience Observatory
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Association of IL23R, TNFRSF1A, and HLA-DRB1*0103 allele variants with inflammatory bowel disease phenotypes in the Finnish population
AssociationN=7,457Maarit Lappalainen et al.(2008)· Inflammatory Bowel Diseases

PhD thesis describing comprehensive genome-wide association studies of acute anterior uveitis (AAU) in European (2,752 cases, 3,836 controls) and East Asian (821 cases, 4,898 controls) populations. European descent GWAS identified HLA-B at genome-wide significance plus 11 suggestive loci (ERAP1, NOS2, MERTK). East Asian GWAS identified HLA-B and ERAP1 at genome-wide significance plus 12 suggestive loci (GPR68, RHBDD2). Mendelian randomization confirmed ERAP1 as functionally relevant and showed genetically predicted CRP levels positively associated with AAU risk.

Traits studied:Acute anterior uveitis (AAU)Ankylosing spondylitis (AS)Spondyloarthropathies
PubMedDOIMetascience Observatory

About CDKAL1

The protein encoded by this gene is a member of the methylthiotransferase family. The function of this gene is not known. Genome-wide association studies have linked single nucleotide polymorphisms in an intron of this gene with susceptibilty to type 2 diabetes. [provided by RefSeq, May 2010]

View all CDKAL1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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