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{{ 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 }} {{ neighbor | rsid = 7754840 | distance = 216 }} rs10946398 increases susceptibility to Type II Diabetes 1.14 times for carriers of the C allele {{PMID|17463249}} {{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 }} {{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] }} {{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. }} {{PMID Auto |PMID=18426861 |Title=Association analysis of type 2 diabetes Loci in type 1 diabetes. }} {{PMID Auto |PMID=18443202 |Title=Association analysis in african americans of European-derived type 2 diabetes single nucleotide polymorphisms from whole-genome association studies. }} {{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. }} {{PMID Auto |PMID=18533027 |Title=Worldwide population differentiation at disease-associated SNPs. }} {{PMID Auto |PMID=18591388 |Title=Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk. }} {{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. }} {{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. }} {{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. }} {{PMID Auto |PMID=19207020 |Title=Meta-analysis in genome-wide association studies. }} {{PMID Auto |PMID=19228808 |Title=Type 2 diabetes risk alleles are associated with reduced size at birth. }} {{PMID Auto |PMID=19341491 |Title=Genome-based prediction of common diseases: methodological considerations for future research. }} {{PMID Auto |PMID=19474294 |Title=Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. }} {{PMID Auto |PMID=19526209 |Title=Is the thrifty genotype hypothesis supported by evidence based on confirmed type 2 diabetes- and obesity-susceptibility variants? }} {{PMID Auto |PMID=19602701 |Title=Underlying genetic models of inheritance in established type 2 diabetes associations. }} {{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. }} {{PMID Auto |PMID=19931040 |Title=Simultaneous genotype calling and haplotype phasing improves genotype accuracy and reduces false-positive associations for genome-wide association studies. }} {{PMID Auto |PMID=20017978 |Title=Influence of control selection in genome-wide association studies: the example of diabetes in the Framingham Heart Study. }} {{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. }} {{PMID Auto |PMID=20080751 |Title=Long-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX, SOX4, and IRX3. }} {{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. }} {{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. }} {{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. }} {{PMID Auto |PMID=20550665 |Title=Association study of genetic variants in eight genes/loci with type 2 diabetes in a Han Chinese population. }} {{PMID Auto |PMID=21278902 |Title=Genetic risk profiling for prediction of type 2 diabetes. }} {{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 }} {{on chip | 23andMe v2}} {{on chip | 23andMe v3}} {{on chip | Affy GenomeWide 6}} {{on chip | Affy500k}} {{on chip | HumanOmni1Quad}}
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