{{Rsnum
|rsid=7754840
|Gene=CDKAL1
|Chromosome=6
|position=20661019
|Orientation=plus
|GMAF=0.4068
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Summary=risk for type-2 diabetes
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=CDKAL1
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 9.7 | 47.8 | 42.5
| HCB | 14.6 | 51.8 | 33.6
| JPT | 14.2 | 50.4 | 35.4
| YRI | 46.9 | 39.5 | 13.6
| ASW | 29.8 | 59.6 | 10.5
| CHB | 14.6 | 51.8 | 33.6
| CHD | 18.3 | 41.3 | 40.4
| GIH | 5.9 | 32.7 | 61.4
| LWK | 36.4 | 44.5 | 19.1
| MEX | 10.3 | 43.1 | 46.6
| MKK | 28.8 | 50.6 | 20.5
| TSI | 9.8 | 37.3 | 52.9
| HapMapRevision=28
}}
{{CPMC SNP
|link=http://cpmc.coriell.org/Sections/Genes/Type2Diabetes.aspx?PgId=103
}}

The accuracy of claims about this snp are called into question by table 1 of {{doi|10.1371/journal.pbio.1000294}}

{{PMID|21233721}} discusses the process of including this snp into Coriell and raises some doubt about the value of its inclusion.

{{PMID|18477659}} [[rs7754840]] replicated as significant for type-2 diabetes risk in 1,900 Japanese patients, with odds ratio of 1.28 (CI: 1.17-1.41, p = 4.5 x 10e-7)

{{PMID|18285412}} [[type-2 diabetes]] Carriers of the (C;G) and (C;C) genotypes of [[rs7754840]] had 11% and 24% lower first-phase insulin release in an IVGTT compared to that in carriers of the (G;G) genotype (P=0.002). The C allele was also associated with higher glucose area under the curve in an OGTT (P=0.016).

{{PMID|18516622}} [[rs7754840]] [[type-2 diabetes]] [[Ashkenazi]] Jewish population shows an even stronger effect for [[rs7754840]] than the general Caucasian population, based on 1,131 cases versus 1,147 controls. 

{{PMID|19033397|OA=1
}} This SNP was confirmed to be associated with [[type-2 diabetes]] in a study of 500+ Japanese patients plus pooled meta-analysis with 6 previous association studies (also of Japanese).

{{ neighbor
| rsid = 10946398
| distance = 216
}}

{{GWAS Summary
|SNP=rs7754840
|PubMedID=17463248
|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
|PMID=19258437
|Title=A Genetic Variant in the IGF2BP2 Gene may Interact with Fetal Malnutrition on Glucose Metabolism.
|OA=1
}}

{{PMID Auto GWAS
|PMID=17463246
|Trait=Type 2 diabetes
|Title=Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels
|RiskAllele=C
|Pval=3.9999999999999998E-11
|OR=1.12
|ORtxt=[1.08-1.16]
}}

{{omim
|id=611259
|desc=CDK5 REGULATORY SUBUNIT-ASSOCIATED PROTEIN 1-LIKE 1; CDKAL1
|rsnum=7754840
}}

{{PharmGKB
|RSID=rs7754840
|Name_s=
|Gene_s=CDKAL1
|Feature=
|Evidence=PubMed ID:17463246; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS Results: Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels (Initial Sample Size: 1,464 cases, 1,467 controls; Replication Sample Size: 5,065 cases, 5,785 controls; Risk Allele: rs7754840-C).
|Drugs=
|Drug Classes=
|Diseases=Diabetes Mellitus; Diabetes Mellitus, Type 2
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356609
}}

{{PMID Auto
|PMID=20802253
|Title=Glycemia determines the effect of type 2 diabetes risk genes on insulin secretion
|OA=1
}}

{{PharmGKB
|RSID=rs7754840
|Name_s=
|Gene_s=CDKAL1
|Feature=
|Evidence=PubMed ID:17463246
|Annotation=rs7754840 demonstrated association with Type 2 Diabetes in a GWAS of Finnish and Swedish patients and controls.
|Drugs=
|Drug Classes=
|Diseases=Diabetes Mellitus, Type 2
|Curation Level=Curated
|PharmGKB Accession ID=PA162168096
}}

{{PharmGKB
|RSID=rs7754840
|Name_s=
|Gene_s=CDKAL1
|Feature=
|Evidence=PubMed ID:17463248
|Annotation=In a large Finnish case-control GWAS, rs7754840 was found to be associated with susceptibility to Type 2 Diabetes.
|Drugs=
|Drug Classes=
|Diseases=Diabetes Mellitus, Type 2
|Curation Level=Curated
|PharmGKB Accession ID=PA162191354
}}

{{PharmGKB
|RSID=rs7754840
|Name_s=
|Gene_s=CDKAL1
|Feature=
|Evidence=PubMed ID:17463248; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS Results: A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants (Initial Sample Size: 1,161 cases, 1,174 controls; Replication Sample Size: 1,215 cases, 1,258 controls; Risk Allele: rs7754840-C).
|Drugs=
|Drug Classes=
|Diseases=Diabetes Mellitus; Diabetes Mellitus, Type 2
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356612
}}

{{omim
|id=611259
|rsnum=7754840
|variant=0001
}}

{{PMID Auto
|PMID=21643948
|Title=Replication study of novel risk variants in six genes with type 2 diabetes and related quantitative traits in the Han Chinese lean individuals
}}

{{PMID Auto
|PMID=22096510
|Title=Association of six single nucleotide polymorphisms with gestational diabetes mellitus in a chinese population
|OA=1
}}

{{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=22233651
|Title=A Genome-Wide Association Study of Gestational Diabetes Mellitus in Korean Women
|OA=1
}}

{{PMID Auto
|PMID=22419714
|Title=Effect of Type 2 Diabetes Predisposing Genetic Variants on Colorectal Cancer Risk
}}

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

{{PMID Auto
|PMID=18224312
|Title=Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment.
|OA=1
}}

{{PMID Auto
|PMID=18264689
|Title=Polymorphisms in the TCF7L2, CDKAL1 and SLC30A8 genes are associated with impaired proinsulin conversion.
}}

{{PMID Auto
|PMID=18423522
|Title=Estimating odds ratios in genome scans: an approximate conditional likelihood approach.
|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=18469204
|Title=Implication of genetic variants near TCF7L2, SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, and FTO in type 2 diabetes and obesity in 6,719 Asians.
|OA=1
}}

{{PMID Auto
|PMID=18544707
|Title=Extension of type 2 diabetes genome-wide association scan results in the diabetes prevention program.
|OA=1
}}

{{PMID Auto
|PMID=18598350
|Title=Impact of nine common type 2 diabetes risk polymorphisms in Asian Indian Sikhs: PPARG2 (Pro12Ala), IGF2BP2, TCF7L2 and FTO variants confer a significant 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=18689899
|Title=Exchangeable models of complex inherited diseases.
|OA=1
}}

{{PMID Auto
|PMID=18694974
|Title=Predicting type 2 diabetes based on polymorphisms from genome-wide association studies: a population-based study.
|OA=1
}}

{{PMID Auto
|PMID=18714373
|Title=Novel meta-analysis-derived type 2 diabetes risk loci do not determine prediabetic phenotypes.
|OA=1
}}

{{PMID Auto
|PMID=18782870
|Title=Clinical review: the genetics of type 2 diabetes: a realistic appraisal in 2008.
|OA=1
}}

{{PMID Auto
|PMID=18985156
|Title=Variance of the SGK1 gene is associated with insulin secretion in different European populations: results from the TUEF, EUGENE2, and METSIM studies.
|OA=1
}}

{{PMID Auto
|PMID=18991055
|Title=Association between polymorphisms in SLC30A8, HHEX, CDKN2A/B, IGF2BP2, FTO, WFS1, CDKAL1, KCNQ1 and type 2 diabetes in the Korean population.
}}

{{PMID Auto
|PMID=19002430
|Title=Type 2 diabetes-associated genetic variants discovered in the recent genome-wide association studies are related to gestational diabetes mellitus in the Korean population.
}}

{{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=19020323
|Title=Genotype score in addition to common risk factors for prediction of type 2 diabetes.
|OA=1
}}

{{PMID Auto
|PMID=19088850
|Title=Polymorphisms within the novel type 2 diabetes risk locus MTNR1B determine beta-cell function.
|OA=1
}}

{{PMID Auto
|PMID=19172244
|Title=The risk allele load accelerates the age-dependent decline in beta cell function.
}}

{{PMID Auto
|PMID=19324937
|Title=Previously associated type 2 diabetes variants may interact with physical activity to modify the risk of impaired glucose regulation and type 2 diabetes: a study of 16,003 Swedish adults.
|OA=1
}}

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

{{PMID Auto
|PMID=19366866
|Title=Association of type 2 diabetes candidate polymorphisms in KCNQ1 with incretin and insulin secretion.
|OA=1
}}

{{PMID Auto
|PMID=19401414
|Title=Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population.
|OA=1
}}

{{PMID Auto
|PMID=19460916
|Title=Genetic architecture of type 2 diabetes: recent progress and clinical implications.
|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=19502414
|Title=Association of 18 confirmed susceptibility loci for type 2 diabetes with indices of insulin release, proinsulin conversion, and insulin sensitivity in 5,327 nondiabetic Finnish men.
|OA=1
}}

{{PMID Auto
|PMID=19615048
|Title=Type 2 diabetes gene TCF7L2 polymorphism is not associated with fetal and postnatal growth in two birth cohort studies.
|OA=1
}}

{{PMID Auto
|PMID=19789630
|Title=Variant near ADAMTS9 known to associate with type 2 diabetes is related to insulin resistance in offspring of type 2 diabetes patients--EUGENE2 study.
|OA=1
}}

{{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=19956539
|Title=How many genetic variants remain to be discovered?
|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=20043853
|Title=Prioritizing genes for follow-up from genome wide association studies using information on gene expression in tissues relevant for type 2 diabetes mellitus.
|OA=1
}}

{{PMID Auto
|PMID=20049090
|Title=Association between type 2 diabetes loci and measures of fatness.
|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=20126254
|Title=Rare variants create synthetic genome-wide associations.
|OA=1
}}

{{PMID Auto
|PMID=20144327
|Title=A genomics study of type 2 diabetes mellitus in U.S. Air Force personnel.
|OA=1
}}

{{PMID Auto
|PMID=20532014
|Title=The epidemiology of diabetes in Korea: from the economics to genetics.
|OA=1
}}

{{PMID Auto
|PMID=20580033
|Title=Replication of recently described type 2 diabetes gene variants in a South Indian population.
}}

{{PMID Auto
|PMID=20712903
|Title=Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study.
|OA=1
}}

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

{{PMID Auto
|PMID=21283728
|Title=Genetic variants of diabetes risk and incident cardiovascular events in chronic coronary artery disease.
|OA=1
}}

{{PMID Auto
|PMID=22119613
|Title=Replication study of common variants in CDKAL1 and CDKN2A/2B genes associated with type 2 diabetes in Lebanese Arab population.
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs7754840
|overall_frequency_n=60
|overall_frequency_d=128
|overall_frequency=0.46875
|n_genomes=40
|n_genomes_annotated=0
|n_haplomes=53
|n_articles=2
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=23029294
|Title=Meta-analysis of the relationship between common type 2 diabetes risk gene variants with gestational diabetes mellitus
|OA=1
}}

{{PMID Auto GWAS
  |PMID=22961080
  |Trait=Type 2 diabetes
  |Title=A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans.
  |RiskAllele=C
  |Pval=7E-10
  |OR=1.35
  |ORtxt=[1.23-1.48]
  |OA=1
}}

{{PMID Auto
|PMID=23690305
|Title=Genetic variants and the risk of gestational diabetes mellitus: a systematic review
}}

{{PMID Auto
|PMID=24112421
|Title=CDKAL1 and HHEX are associated with type-2 diabetes-related traits among Yup'ik people
}}

{{PMID Auto
|PMID=22438186
|Title=A SNP in G6PC2 predicts insulin secretion in type 1 diabetes
}}

{{PMID Auto
|PMID=22923468
|Title=Contribution of common genetic variation to the risk of type 2 diabetes in the Mexican Mestizo population.
|OA=1
}}

{{PMID Auto
|PMID=23458876
|Title=ACE I/D and MTHFR C677T polymorphisms are significantly associated with type 2 diabetes in Arab ethnicity: a meta-analysis.
}}

{{PMID Auto
|PMID=23462794
|Title=Identification of CpG-SNPs associated with type 2 diabetes and differential DNA methylation in human pancreatic islets.
|OA=1
}}

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