rs7756992
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | normal |
| (A;G) | 1.3x increased risk for type-2 diabetes | |
| (G;G) | 1.3x increased risk for type-2 diabetes |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 20679478 |
| Gene | CDKAL1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs7756992 |
| dbSNP (classic) | rs7756992 |
| ClinGen | rs7756992 |
| ebi | rs7756992 |
| HLI | rs7756992 |
| Exac | rs7756992 |
| Gnomad | rs7756992 |
| Varsome | rs7756992 |
| LitVar | rs7756992 |
| Map | rs7756992 |
| PheGenI | rs7756992 |
| Biobank | rs7756992 |
| 1000 genomes | rs7756992 |
| hgdp | rs7756992 |
| ensembl | rs7756992 |
| geneview | rs7756992 |
| scholar | rs7756992 |
| rs7756992 | |
| pharmgkb | rs7756992 |
| gwascentral | rs7756992 |
| openSNP | rs7756992 |
| 23andMe | rs7756992 |
| SNPshot | rs7756992 |
| SNPdbe | rs7756992 |
| MSV3d | rs7756992 |
| GWAS Ctlg | rs7756992 |
| GMAF | 0.4054 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 18162508] rs7756992 significantly p = 0.0363 associated with type-2 diabetes in 1,630 Japanese subjects and in 1,064 controls
[PMID 18477659] rs7756992 replicated as significant for type-2 diabetes risk in 1,900 Japanese patients, with odds ratio of 1.27 (CI: 1.15-1.40, p = 9.8 x 10e-7)
[PMID 18437351] 1,638 type 2 diabetes patients and 1,858 controls
- rs7756992 non-significant
[PMID 18461161
] T2D and normal glucose tolerant (NGT) individuals. (3,295 T2D and 3,595 NGT), strong associations with T2D were found for
- CDKAL1 (OR(rs7756992) = 1.30[1.19-1.42], P = 2.3x10(-9))
- CDKN2A/2B (OR(rs10811661) = 0.74[0.66-0.82], P = 3.5x10(-8))
- IGFBP2 (OR(rs1470579) = 1.17[1.07-1.27], P = 0.0003) SNPs.
T2D risk increased strongly when risk alleles, including the previously discovered T2D-associated TCF7L2 rs7903146 SNP, were combined (8.68-fold for the 14% of French individuals carrying 18 to 30 risk alleles with an allelic OR of 1.24)
[PMID 19033397] 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).
| GWAS | |
|---|---|
| SNP | rs7756992 |
| PubMedID | [PMID 17460697] |
| Condition | Type 2 diabetes |
| Gene | CDKAL1 |
| Risk Allele | G |
| pValue | 8.00E-009 |
| OR | 1.2 |
| 95% CI | 1.13-1.27 |
[PMID 19718565] Genetic variants of cyclin-dependent kinase 5 regulatory subunit associated protein 1-like 1 and transcription factor 7-like 2 are not associated with polycystic ovary syndrome in Chinese women
[PMID 19592620] Examination of type 2 diabetes loci implicates CDKAL1 as a birth weight gene
[PMID 20043145] Improvements in glucose homeostasis in response to regular exercise are influenced by the PPARG Pro12Ala variant: results from the HERITAGE Family Study
[PMID 20490451] Type 2 diabetes risk alleles near ADCY5, CDKAL1 and HHEX-IDE are associated with reduced birthweight
[PMID 22052079] Association analysis of 31 common polymorphisms with type 2 diabetes and its related traits in Indian sib pairs
[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 22437209] Genetic variants on chromosome 6p21.1 and 6p22.3 are associated with type 2 diabetes risk: a case-control study in Han Chinese
[PMID 17786212] Heterogeneity in meta-analyses of genome-wide association investigations.
[PMID 17928989] Variations in the HHEX gene are associated with increased risk of type 2 diabetes in the Japanese population.
[PMID 18210030] Analysis of novel risk loci for type 2 diabetes in a general French population: the D.E.S.I.R. study.
[PMID 18426861] Association analysis of type 2 diabetes Loci in type 1 diabetes.
[PMID 18469204] Implication of genetic variants near TCF7L2, SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, and FTO in type 2 diabetes and obesity in 6,719 Asians.
[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 18835935] Genome-wide linkage scan in Gullah-speaking African American families with type 2 diabetes: the Sea Islands Genetic African American Registry (Project SuGAR).
[PMID 19002430] 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 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 19279076] Genetic predisposition, Western dietary pattern, and the risk of type 2 diabetes in men.
[PMID 19401414] Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population.
[PMID 19455305] No association of multiple type 2 diabetes loci with type 1 diabetes.
[PMID 19474294] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.
[PMID 19750184] Genome-wide association studies for atherosclerotic vascular disease and its risk factors.
[PMID 19862325] PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 are associated with type 2 diabetes in a Chinese population.
[PMID 20080751] Long-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX, SOX4, and IRX3.
[PMID 20580033] Replication of recently described type 2 diabetes gene variants in a South Indian population.
[PMID 21278902] Genetic risk profiling for prediction of type 2 diabetes.
[PMID 21368910] Heterogeneity of genetic associations of CDKAL1 and HHEX with susceptibility of type 2 diabetes mellitus by gender.
[PMID 21416855] [Relationship of the CDKAL1 and KCNQ1 gene polymorphisms to the age at diagnosis of type 2 diabetes in the Slovakian population].
[PMID 22119613] Replication study of common variants in CDKAL1 and CDKN2A/2B genes associated with type 2 diabetes in Lebanese Arab population.
[PMID 22292718] Variation in CDKAL1 gene is associated with therapeutic response to sulphonylureas.
[PMID 23990951] Association of genetic variants with isolated fasting hyperglycaemia and isolated postprandial hyperglycaemia in a han chinese population
[PMID 24468095] Genetic variants for type 2 diabetes and new-onset cancer in Chinese with type 2 diabetes
| GWAS snp | |
|---|---|
| PMID | [PMID 24509480]
|
| Trait | Type 2 diabetes |
| Title | Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. |
| Risk Allele | G |
| P-val | 2E-26 |
| Odds Ratio | 1.20 [1.16-1.25] |
[PMID 25634229] A cautionary tale: the non-causal association between type 2 diabetes risk SNP, rs7756992, and levels of non-coding RNA, CDKAL1-v1
| ClinVar | |
|---|---|
| Risk | Rs7756992(G;G) |
| Alt | Rs7756992(G;G) |
| Reference | Rs7756992(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.20679709A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000001038.5, |
[PMID 29871606] Impact of KCNQ1, CDKN2A/2B, CDKAL1, HHEX, MTNR1B, SLC30A8, TCF7L2, and UBE2E2 on risk of developing type 2 diabetes in Thai population.
