rs10946398
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs10946398(A;C) |
| Make rs10946398(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 20660803 |
| Gene | CDKAL1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs10946398 |
| dbSNP (classic) | rs10946398 |
| ClinGen | rs10946398 |
| ebi | rs10946398 |
| HLI | rs10946398 |
| Exac | rs10946398 |
| Gnomad | rs10946398 |
| Varsome | rs10946398 |
| LitVar | rs10946398 |
| Map | rs10946398 |
| PheGenI | rs10946398 |
| Biobank | rs10946398 |
| 1000 genomes | rs10946398 |
| hgdp | rs10946398 |
| ensembl | rs10946398 |
| geneview | rs10946398 |
| scholar | rs10946398 |
| rs10946398 | |
| pharmgkb | rs10946398 |
| gwascentral | rs10946398 |
| openSNP | rs10946398 |
| 23andMe | rs10946398 |
| SNPshot | rs10946398 |
| SNPdbe | rs10946398 |
| MSV3d | rs10946398 |
| GWAS Ctlg | rs10946398 |
| GMAF | 0.4082 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
| Rs10946398 | |
|---|---|
| PubMed | [PMID 17463249 ]
|
| Affy Probeset | SNP_A-4253796 |
| Affy Orientation | reverse |
| On GW 5.0 | 1 |
| Alleles A/B | G/T |
| Ancestral | C |
| Population | EU (UK) |
| Allele | C |
| Case Freq. | |
| Control Freq. | |
| Odds Ratio Het | |
| Odds Ratio Hom | |
| Odds Ratio All | 1.14 |
| Disease | Type II Diabetes (T2D) |
rs10946398 increases susceptibility to Type II Diabetes 1.14 times for carriers of the C allele [PMID 17463249]
| GWAS | |
|---|---|
| SNP | rs10946398 |
| PubMedID | [PMID 17463249]
|
| Condition | Type 2 diabetes |
| Gene | CDKAL1 |
| Risk Allele | C |
| pValue | 4.00E-011 |
| OR | 1.12 |
| 95% CI | 1.08-1.16 |
| GWAS snp | |
|---|---|
| PMID | [PMID 19056611]
|
| Trait | Type 2 diabetes |
| Title | Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome wide association data |
| Risk Allele | |
| P-val | 7E-7 |
| Odds Ratio | 1.18 [1.11-1.26] |
[PMID 21673421] Genetic factors in risk assessment for the development of type 2 diabetes mellitus in a small case series
[PMID 21611789] 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 17786212] Heterogeneity in meta-analyses of genome-wide association investigations.
[PMID 18426861] Association analysis of type 2 diabetes Loci in type 1 diabetes.
[PMID 18443202] Association analysis in african americans of European-derived type 2 diabetes single nucleotide polymorphisms from whole-genome association studies.
[PMID 18461161] Post genome-wide association studies of novel genes associated with type 2 diabetes show gene-gene interaction and high predictive value.
[PMID 18533027] Worldwide population differentiation at disease-associated SNPs.
[PMID 18591388] Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk.
[PMID 18633108] 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 19008344] 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 19096518] 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 19207020] Meta-analysis in genome-wide association studies.
[PMID 19228808] Type 2 diabetes risk alleles are associated with reduced size at birth.
[PMID 19341491] Genome-based prediction of common diseases: methodological considerations for future research.
[PMID 19474294] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.
[PMID 19526209] Is the thrifty genotype hypothesis supported by evidence based on confirmed type 2 diabetes- and obesity-susceptibility variants?
[PMID 19602701] Underlying genetic models of inheritance in established type 2 diabetes associations.
[PMID 19741467] Association of common type 2 diabetes risk gene variants and posttransplantation diabetes mellitus in renal allograft recipients in Korea.
[PMID 19862325] PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 are associated with type 2 diabetes in a Chinese population.
[PMID 19931040] Simultaneous genotype calling and haplotype phasing improves genotype accuracy and reduces false-positive associations for genome-wide association studies.
[PMID 20017978] Influence of control selection in genome-wide association studies: the example of diabetes in the Framingham Heart Study.
[PMID 20018066] 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 20080751] Long-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX, SOX4, and IRX3.
[PMID 20161779] Investigation of type 2 diabetes risk alleles support CDKN2A/B, CDKAL1, and TCF7L2 as susceptibility genes in a Han Chinese cohort.
[PMID 20424228] 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 20509872] 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 20550665] Association study of genetic variants in eight genes/loci with type 2 diabetes in a Han Chinese population.
[PMID 21278902] Genetic risk profiling for prediction of type 2 diabetes.
[PMID 23298195] Association study of genetic variants of 17 diabetes-related genes/loci and cardiovascular risk and diabetic nephropathy in the Chinese She population.
| ClinVar | |
|---|---|
| Risk | rs10946398(C;C) |
| Alt | rs10946398(C;C) |
| Reference | Rs10946398(A;A) |
| Significance | Unknown |
| Disease | Diabetes mellitus type 2 |
| Variation | info |
| Gene | CDKAL1 |
| CLNDBN | Diabetes mellitus type 2 |
| Reversed | 0 |
| HGVS | NC_000006.11:g.20661034A>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000001037.6, |
[PMID 28359772] GCK, GCKR, FADS1, DGKB/TMEM195 and CDKAL1 Gene Polymorphisms in Women with Gestational Diabetes.
[PMID 33269568] The triglyceride glucose index (TyG) and CDKAL1 gene rs10946398 SNP are associated with NAFLD in Chinese adults.
