{{Rsnum
|rsid=10946398
|Gene=CDKAL1
|Chromosome=6
|position=20660803
|Orientation=plus
|GMAF=0.4082
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene_s=CDKAL1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;C)
| geno3=(C;C)
| CEU | 42.5 | 47.8 | 9.7
| HCB | 33.6 | 51.8 | 14.6
| JPT | 35.4 | 50.4 | 14.2
| YRI | 13.6 | 39.5 | 46.9
| ASW | 10.5 | 59.6 | 29.8
| CHB | 33.6 | 51.8 | 14.6
| CHD | 40.4 | 41.3 | 18.3
| GIH | 61.4 | 32.7 | 5.9
| LWK | 19.1 | 43.6 | 37.3
| MEX | 44.8 | 44.8 | 10.3
| MKK | 20.5 | 50.6 | 28.8
| TSI | 52.9 | 37.3 | 9.8
| HapMapRevision=28
}}{{Report GE
|PubMed=17463249
|Source=lit
|AffyProbeset=SNP_A-4253796
|AffyOrientation=reverse
|AlleleA=G
|AlleleB=T
|onGW5=1
|rsid=10946398
|ancestral=C
|RiskPopulation=EU (UK)
|RiskAllele=C
|CaseFreq=
|ControlFreq=
|OddsRatioHet=
|OddsRatioHom=
|OddsRatioAll=1.14
|Disease=Type II Diabetes
|DiseaseSymbol=T2D
|OA=1
}}

{{ neighbor
| rsid = 7754840
| distance = 216
}}

rs10946398 increases susceptibility to Type II Diabetes 1.14 times for carriers of the C allele {{PMID|17463249|OA=1
}}

{{GWAS Summary
|SNP=rs10946398
|PubMedID=17463249
|Condition=Type 2 diabetes
|Gene=CDKAL1
|Risk Allele=C
|pValue=4.00E-011
|OR=1.12
|95CI=1.08-1.16
|OA=1
}}

{{PMID Auto GWAS
|PMID=19056611
|Trait=Type 2 diabetes
|Title=Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome wide association data
|RiskAllele=
|Pval=7E-7
|OR=1.18
|ORtxt=[1.11-1.26]
|OA=1
}}

{{omim
|id=611259
|desc=CDK5 REGULATORY SUBUNIT-ASSOCIATED PROTEIN 1-LIKE 1; CDKAL1
|rsnum=10946398
}}

{{PharmGKB
|RSID=rs10946398
|Name_s=
|Gene_s=CDKAL1
|Feature=
|Evidence=PubMed ID:19056611; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome wide association data. (Initial Sample Size: 1,924 cases, 2,938 controls; Replication Sample Size: 3,757 cases, 5,346 controls); (Region: 6p22.3; Reported Gene(s): CDKAL; Risk Allele: rs10946398-?); (p-value= 0.0000007).This variant is associated with Type 2 diabetes.
|Drugs=
|Drug Classes=
|Diseases=Diabetes Mellitus; Diabetes Mellitus, Type 2
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164740297
}}

{{PharmGKB
|RSID=rs10946398
|Name_s=
|Gene_s=CDKAL1
|Feature=
|Evidence=PubMed ID:17463249
|Annotation=rs10946398 is associated with susceptibility to Type 2 Diabetes. This association was identified in a UK case-control study and was replicated in another UK case-control cohort as well as in two other large case-control studies.
|Drugs=
|Drug Classes=
|Diseases=Diabetes Mellitus, Type 2
|Curation Level=Curated
|PharmGKB Accession ID=PA162191334
}}

{{PharmGKB
|RSID=rs10946398
|Name_s=
|Gene_s=CDKAL1
|Feature=
|Evidence=PubMed ID:17463249; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS Results: Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes (Initial Sample Size: 1,924 cases, 2,938 controls; Replication Sample Size: 3,757 cases, 5,346 controls; Risk Allele: rs10946398-C).
|Drugs=
|Drug Classes=
|Diseases=Diabetes Mellitus; Diabetes Mellitus, Type 2
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356615
}}

{{omim
|id=611259
|rsnum=10946398
|variant=0001
}}

{{PMID Auto
|PMID=21673421
|Title=Genetic factors in risk assessment for the development of type 2 diabetes mellitus in a small case series
}}

{{PMID Auto
|PMID=21611789
|Title=The carriage of risk variants of CDKAL1 impairs beta-cell function in both diabetic and non-diabetic patients and reduces response to non-sulfonylurea and sulfonylurea agonists of the pancreatic KATP channel
}}

{{PMID Auto
|PMID=17786212
|Title=Heterogeneity in meta-analyses of genome-wide association investigations.
|OA=1
}}

{{PMID Auto
|PMID=18426861
|Title=Association analysis of type 2 diabetes Loci in type 1 diabetes.
|OA=1
}}

{{PMID Auto
|PMID=18443202
|Title=Association analysis in african americans of European-derived type 2 diabetes single nucleotide polymorphisms from whole-genome association studies.
|OA=1
}}

{{PMID Auto
|PMID=18461161
|Title=Post genome-wide association studies of novel genes associated with type 2 diabetes show gene-gene interaction and high predictive value.
|OA=1
}}

{{PMID Auto
|PMID=18533027
|Title=Worldwide population differentiation at disease-associated SNPs.
|OA=1
}}

{{PMID Auto
|PMID=18591388
|Title=Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk.
|OA=1
}}

{{PMID Auto
|PMID=18633108
|Title=Common variants in CDKAL1, CDKN2A/B, IGF2BP2, SLC30A8, and HHEX/IDE genes are associated with type 2 diabetes and impaired fasting glucose in a Chinese Han population.
|OA=1
}}

{{PMID Auto
|PMID=19008344
|Title=Association analysis of variation in/near FTO, CDKAL1, SLC30A8, HHEX, EXT2, IGF2BP2, LOC387761, and CDKN2B with type 2 diabetes and related quantitative traits in Pima Indians.
|OA=1
}}

{{PMID Auto
|PMID=19096518
|Title=Novel association of HK1 with glycated hemoglobin in a non-diabetic population: a genome-wide evaluation of 14,618 participants in the Women's Genome Health Study.
|OA=1
}}

{{PMID Auto
|PMID=19207020
|Title=Meta-analysis in genome-wide association studies.
|OA=1
}}

{{PMID Auto
|PMID=19228808
|Title=Type 2 diabetes risk alleles are associated with reduced size at birth.
|OA=1
}}

{{PMID Auto
|PMID=19341491
|Title=Genome-based prediction of common diseases: methodological considerations for future research.
|OA=1
}}

{{PMID Auto
|PMID=19474294
|Title=Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.
|OA=1
}}

{{PMID Auto
|PMID=19526209
|Title=Is the thrifty genotype hypothesis supported by evidence based on confirmed type 2 diabetes- and obesity-susceptibility variants?
|OA=1
}}

{{PMID Auto
|PMID=19602701
|Title=Underlying genetic models of inheritance in established type 2 diabetes associations.
|OA=1
}}

{{PMID Auto
|PMID=19741467
|Title=Association of common type 2 diabetes risk gene variants and posttransplantation diabetes mellitus in renal allograft recipients in Korea.
}}

{{PMID Auto
|PMID=19862325
|Title=PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 are associated with type 2 diabetes in a Chinese population.
|OA=1
}}

{{PMID Auto
|PMID=19931040
|Title=Simultaneous genotype calling and haplotype phasing improves genotype accuracy and reduces false-positive associations for genome-wide association studies.
|OA=1
}}

{{PMID Auto
|PMID=20017978
|Title=Influence of control selection in genome-wide association studies: the example of diabetes in the Framingham Heart Study.
|OA=1
}}

{{PMID Auto
|PMID=20018066
|Title=Epistatic interactions of CDKN2B-TCF7L2 for risk of type 2 diabetes and of CDKN2B-JAZF1 for triglyceride/high-density lipoprotein ratio longitudinal change: evidence from the Framingham Heart Study.
|OA=1
}}

{{PMID Auto
|PMID=20080751
|Title=Long-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX, SOX4, and IRX3.
|OA=1
}}

{{PMID Auto
|PMID=20161779
|Title=Investigation of type 2 diabetes risk alleles support CDKN2A/B, CDKAL1, and TCF7L2 as susceptibility genes in a Han Chinese cohort.
|OA=1
}}

{{PMID Auto
|PMID=20424228
|Title=Impact of common variants of PPARG, KCNJ11, TCF7L2, SLC30A8, HHEX, CDKN2A, IGF2BP2, and CDKAL1 on the risk of type 2 diabetes in 5,164 Indians.
|OA=1
}}

{{PMID Auto
|PMID=20509872
|Title=Implication of genetic variants near SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, FTO, TCF2, KCNQ1, and WFS1 in type 2 diabetes in a Chinese population.
|OA=1
}}

{{PMID Auto
|PMID=20550665
|Title=Association study of genetic variants in eight genes/loci with type 2 diabetes in a Han Chinese population.
|OA=1
}}

{{PMID Auto
|PMID=21278902
|Title=Genetic risk profiling for prediction of type 2 diabetes.
|OA=1
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs10946398
|overall_frequency_n=60
|overall_frequency_d=128
|overall_frequency=0.46875
|n_genomes=40
|n_genomes_annotated=0
|n_haplomes=53
|n_articles=1
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=23298195
|Title=Association study of genetic variants of 17 diabetes-related genes/loci and cardiovascular risk and diabetic nephropathy in the Chinese She population.
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | Affy500k}}
{{on chip | HumanOmni1Quad}}