chr6:20661250:G>T Detail (hg19) (CDKAL1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:20,661,250-20,661,250 |
| hg38 | chr6:20,661,019-20,661,019 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_017774.3:c.371+11642G>T | |
| Ensemble | ENST00000274695.8:c.371+11642G>T | |
| ENST00000378610.1:c.371+11642G>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.003 | Diabetes Mellitus, Non-Insulin-Dependent | Three SNPs-rs7756992 (P = .007), rs7754840 (P = .015), and rs6931514 (P = .029)-... | BeFree | 20580033 | Detail |
| 0.421 | Diabetes Mellitus, Non-Insulin-Dependent | Three SNPs-rs7756992 (P = .007), rs7754840 (P = .015), and rs6931514 (P = .029)-... | BeFree | 20580033 | Detail |
| 0.090 | Diabetes Mellitus, Non-Insulin-Dependent | Three SNPs-rs7756992 (P = .007), rs7754840 (P = .015), and rs6931514 (P = .029)-... | BeFree | 20580033 | Detail |
| 0.214 | Diabetes Mellitus, Non-Insulin-Dependent | Three SNPs-rs7756992 (P = .007), rs7754840 (P = .015), and rs6931514 (P = .029)-... | BeFree | 20580033 | Detail |
| 0.452 | Diabetes Mellitus, Non-Insulin-Dependent | We found a lower risk of prediabetes and type 2 diabetes combined with coffee in... | BeFree | 25755232 | Detail |
| 0.466 | Diabetes Mellitus, Non-Insulin-Dependent | We found a lower risk of prediabetes and type 2 diabetes combined with coffee in... | BeFree | 25755232 | Detail |
| <0.001 | prediabetes syndrome | We found a lower risk of prediabetes and type 2 diabetes combined with coffee in... | BeFree | 25755232 | Detail |
| 0.081 | prediabetes syndrome | We found that inverse associations between habitual coffee intake and the combin... | BeFree | 25755232 | Detail |
| <0.001 | prediabetes syndrome | We found that inverse associations between habitual coffee intake and the combin... | BeFree | 25755232 | Detail |
| 0.421 | Diabetes Mellitus, Non-Insulin-Dependent | We found a lower risk of prediabetes and type 2 diabetes combined with coffee in... | BeFree | 25755232 | Detail |
| 0.421 | Diabetes Mellitus, Non-Insulin-Dependent | After correcting for multiple testing, however, only the association between T2D... | BeFree | 21643948 | Detail |
| 0.005 | Insulin resistance | [rs7754840 of CDKAL1 was associated with markers of impaired insulin secretion i... | GAD | 18285412 | Detail |
| 0.123 | gestational diabetes | In conclusion, we have confirmed that genetic variants in CDKAL1 and near MTNR1B... | GWASCAT | 22233651 | Detail |
| 0.421 | Diabetes Mellitus, Non-Insulin-Dependent | We identify T2D-associated variants in an intergenic region of chromosome 11p12,... | GWASCAT | 17463248 | Detail |
| 0.421 | Diabetes Mellitus, Non-Insulin-Dependent | With collaborators (FUSION and WTCCC/UKT2D), we identified and confirmed three l... | GWASCAT | 17463246 | Detail |
| 0.374 | Diabetes Mellitus, Non-Insulin-Dependent | In study 2, rs7754840 was significantly associated with type 2 diabetes (P = 0.0... | BeFree | 18285412 | Detail |
| 0.421 | Diabetes Mellitus, Non-Insulin-Dependent | Genome-wide association study identifies three novel loci for type 2 diabetes. | GWASCAT | 23945395 | Detail |
| 0.123 | gestational diabetes | [In conclusion, we have confirmed that genetic variants in CDKAL1 and near MTNR1... | GAD | 22233651 | Detail |
| 0.421 | Diabetes Mellitus, Non-Insulin-Dependent | In addition, rs7754840 (CDKAL1) was associated in the nonobese type 2 diabetic s... | BeFree | 22923468 | Detail |
| 0.421 | Diabetes Mellitus, Non-Insulin-Dependent | In addition, simulation analysis indicated that a type 2 diabetes risk variant i... | BeFree | 25222615 | Detail |
| 0.614 | Diabetes Mellitus, Non-Insulin-Dependent | In addition, rs7754840 (CDKAL1) was associated in the nonobese type 2 diabetic s... | BeFree | 22923468 | Detail |
| 0.340 | Diabetes Mellitus, Non-Insulin-Dependent | Eight SNPs in five loci were found to be associated with type 2 diabetes: rs3802... | BeFree | 18477659 | Detail |
| 0.452 | Diabetes Mellitus, Non-Insulin-Dependent | Eight SNPs in five loci were found to be associated with type 2 diabetes: rs3802... | BeFree | 18477659 | Detail |
| 0.421 | Diabetes Mellitus, Non-Insulin-Dependent | In our case-control subjects, susceptibility to type 2 diabetes was replicated i... | BeFree | 19033397 | Detail |
| 0.214 | Diabetes Mellitus, Non-Insulin-Dependent | Eight SNPs in five loci were found to be associated with type 2 diabetes: rs3802... | BeFree | 18477659 | Detail |
| 0.090 | Diabetes Mellitus, Non-Insulin-Dependent | In our case-control subjects, susceptibility to type 2 diabetes was replicated i... | BeFree | 19033397 | Detail |
| <0.001 | gestational diabetes | The risk alleles of the SNPs rs7756992 and rs7754840 in CDKAL1; rs10811661 in th... | BeFree | 19002430 | Detail |
| 0.421 | Diabetes Mellitus, Non-Insulin-Dependent | Eight SNPs in five loci were found to be associated with type 2 diabetes: rs3802... | BeFree | 18477659 | Detail |
| <0.001 | gestational diabetes | The risk alleles of the SNPs rs7756992 and rs7754840 in CDKAL1; rs10811661 in th... | BeFree | 19002430 | Detail |
| 0.452 | Diabetes Mellitus, Non-Insulin-Dependent | In our case-control subjects, susceptibility to type 2 diabetes was replicated i... | BeFree | 19033397 | Detail |
| 0.123 | gestational diabetes | The risk alleles of the SNPs rs7756992 and rs7754840 in CDKAL1; rs10811661 in th... | BeFree | 19002430 | Detail |
| <0.001 | gestational diabetes | The risk alleles of the SNPs rs7756992 and rs7754840 in CDKAL1; rs10811661 in th... | BeFree | 19002430 | Detail |
| 0.024 | gestational diabetes | The risk alleles of the SNPs rs7756992 and rs7754840 in CDKAL1; rs10811661 in th... | BeFree | 19002430 | Detail |
| 0.340 | Diabetes Mellitus, Non-Insulin-Dependent | In our case-control subjects, susceptibility to type 2 diabetes was replicated i... | BeFree | 19033397 | Detail |
| 0.083 | Diabetes Mellitus, Non-Insulin-Dependent | Eight SNPs in five loci were found to be associated with type 2 diabetes: rs3802... | BeFree | 18477659 | Detail |
| 0.009 | gestational diabetes | 13 SNPs (FTO rs8050136, CDKAL1 rs7754840 and rs7756992, CDKN2A/2B rs10811661, HH... | BeFree | 22591707 | Detail |
| 0.005 | gestational diabetes | The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A,... | BeFree | 23690305 | Detail |
| 0.024 | gestational diabetes | We also found that the risk alleles of rs2383208 (b = -0.085, p = 0.003), rs4402... | BeFree | 22096510 | Detail |
| 0.123 | gestational diabetes | The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A,... | BeFree | 23690305 | Detail |
| 0.002 | gestational diabetes | The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A,... | BeFree | 23690305 | Detail |
| 0.009 | gestational diabetes | The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A,... | BeFree | 23690305 | Detail |
| 0.126 | gestational diabetes | The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A,... | BeFree | 23690305 | Detail |
| 0.145 | gestational diabetes | The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A,... | BeFree | 23690305 | Detail |
| 0.421 | Diabetes Mellitus, Non-Insulin-Dependent | Besides confirming seven established T2D loci (CDKAL1, CDKN2A/B, KCNQ1, CDC123, ... | BeFree | 22961080 | Detail |
| 0.004 | Diabetes | We showed association of the minor allele C of rs10946398 (Odds Ratio (OR) = 1.2... | BeFree | 21611789 | Detail |
| 0.015 | diabetes mellitus | We showed association of the minor allele C of rs10946398 (Odds Ratio (OR) = 1.2... | BeFree | 21611789 | Detail |
| 0.006 | obesity | In this study, we asked whether the co-occurrence of risk alleles in or near fiv... | BeFree | 24062323 | Detail |
| 0.003 | Impaired glucose tolerance | In this study, we asked whether the co-occurrence of risk alleles in or near fiv... | BeFree | 24062323 | Detail |
| 0.214 | Diabetes Mellitus, Non-Insulin-Dependent | In this study, we asked whether the co-occurrence of risk alleles in or near fiv... | BeFree | 24062323 | Detail |
| 0.011 | obesity | In this study, we asked whether the co-occurrence of risk alleles in or near fiv... | BeFree | 24062323 | Detail |
| 0.329 | Diabetes Mellitus, Non-Insulin-Dependent | In this study, we asked whether the co-occurrence of risk alleles in or near fiv... | BeFree | 24062323 | Detail |
| 0.007 | Impaired glucose tolerance | In this study, we asked whether the co-occurrence of risk alleles in or near fiv... | BeFree | 24062323 | Detail |
| 0.136 | colorectal cancer | A further analysis revealed gender-specific effects: the TCF7L2_rs7903146_T alle... | BeFree | 22419714 | Detail |
| <0.001 | colorectal carcinoma | A further analysis revealed gender-specific effects: the TCF7L2_rs7903146_T alle... | BeFree | 22419714 | Detail |
| 0.011 | colorectal carcinoma | A further analysis revealed gender-specific effects: the TCF7L2_rs7903146_T alle... | BeFree | 22419714 | Detail |
| <0.001 | colorectal cancer | A further analysis revealed gender-specific effects: the TCF7L2_rs7903146_T alle... | BeFree | 22419714 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Three SNPs-rs7756992 (P = .007), rs7754840 (P = .015), and rs6931514 (P = .029)-of the CDKAL1, rs702... | DisGeNET | Detail |
| Three SNPs-rs7756992 (P = .007), rs7754840 (P = .015), and rs6931514 (P = .029)-of the CDKAL1, rs702... | DisGeNET | Detail |
| Three SNPs-rs7756992 (P = .007), rs7754840 (P = .015), and rs6931514 (P = .029)-of the CDKAL1, rs702... | DisGeNET | Detail |
| Three SNPs-rs7756992 (P = .007), rs7754840 (P = .015), and rs6931514 (P = .029)-of the CDKAL1, rs702... | DisGeNET | Detail |
| We found a lower risk of prediabetes and type 2 diabetes combined with coffee intake among individua... | DisGeNET | Detail |
| We found a lower risk of prediabetes and type 2 diabetes combined with coffee intake among individua... | DisGeNET | Detail |
| We found a lower risk of prediabetes and type 2 diabetes combined with coffee intake among individua... | DisGeNET | Detail |
| We found that inverse associations between habitual coffee intake and the combined risk of type 2 di... | DisGeNET | Detail |
| We found that inverse associations between habitual coffee intake and the combined risk of type 2 di... | DisGeNET | Detail |
| We found a lower risk of prediabetes and type 2 diabetes combined with coffee intake among individua... | DisGeNET | Detail |
| After correcting for multiple testing, however, only the association between T2D and rs7754840 at CD... | DisGeNET | Detail |
| [rs7754840 of CDKAL1 was associated with markers of impaired insulin secretion in two independent st... | DisGeNET | Detail |
| In conclusion, we have confirmed that genetic variants in CDKAL1 and near MTNR1B are strongly associ... | DisGeNET | Detail |
| We identify T2D-associated variants in an intergenic region of chromosome 11p12, contribute to the i... | DisGeNET | Detail |
| With collaborators (FUSION and WTCCC/UKT2D), we identified and confirmed three loci associated with ... | DisGeNET | Detail |
| In study 2, rs7754840 was significantly associated with type 2 diabetes (P = 0.022) and markers of i... | DisGeNET | Detail |
| Genome-wide association study identifies three novel loci for type 2 diabetes. | DisGeNET | Detail |
| [In conclusion, we have confirmed that genetic variants in CDKAL1 and near MTNR1B are strongly assoc... | DisGeNET | Detail |
| In addition, rs7754840 (CDKAL1) was associated in the nonobese type 2 diabetic subgroup, and for rs7... | DisGeNET | Detail |
| In addition, simulation analysis indicated that a type 2 diabetes risk variant in CDKAL1 (rs7754840)... | DisGeNET | Detail |
| In addition, rs7754840 (CDKAL1) was associated in the nonobese type 2 diabetic subgroup, and for rs7... | DisGeNET | Detail |
| Eight SNPs in five loci were found to be associated with type 2 diabetes: rs3802177 [odds ratio (OR)... | DisGeNET | Detail |
| Eight SNPs in five loci were found to be associated with type 2 diabetes: rs3802177 [odds ratio (OR)... | DisGeNET | Detail |
| In our case-control subjects, susceptibility to type 2 diabetes was replicated in TCF7L2 (rs12255372... | DisGeNET | Detail |
| Eight SNPs in five loci were found to be associated with type 2 diabetes: rs3802177 [odds ratio (OR)... | DisGeNET | Detail |
| In our case-control subjects, susceptibility to type 2 diabetes was replicated in TCF7L2 (rs12255372... | DisGeNET | Detail |
| The risk alleles of the SNPs rs7756992 and rs7754840 in CDKAL1; rs10811661 in the CDKN2A-CDKN2B regi... | DisGeNET | Detail |
| Eight SNPs in five loci were found to be associated with type 2 diabetes: rs3802177 [odds ratio (OR)... | DisGeNET | Detail |
| The risk alleles of the SNPs rs7756992 and rs7754840 in CDKAL1; rs10811661 in the CDKN2A-CDKN2B regi... | DisGeNET | Detail |
| In our case-control subjects, susceptibility to type 2 diabetes was replicated in TCF7L2 (rs12255372... | DisGeNET | Detail |
| The risk alleles of the SNPs rs7756992 and rs7754840 in CDKAL1; rs10811661 in the CDKN2A-CDKN2B regi... | DisGeNET | Detail |
| The risk alleles of the SNPs rs7756992 and rs7754840 in CDKAL1; rs10811661 in the CDKN2A-CDKN2B regi... | DisGeNET | Detail |
| The risk alleles of the SNPs rs7756992 and rs7754840 in CDKAL1; rs10811661 in the CDKN2A-CDKN2B regi... | DisGeNET | Detail |
| In our case-control subjects, susceptibility to type 2 diabetes was replicated in TCF7L2 (rs12255372... | DisGeNET | Detail |
| Eight SNPs in five loci were found to be associated with type 2 diabetes: rs3802177 [odds ratio (OR)... | DisGeNET | Detail |
| 13 SNPs (FTO rs8050136, CDKAL1 rs7754840 and rs7756992, CDKN2A/2B rs10811661, HHEX rs1111875, IGF2BP... | DisGeNET | Detail |
| The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A, GCK), rs5219 (E23K,... | DisGeNET | Detail |
| We also found that the risk alleles of rs2383208 (b = -0.085, p = 0.003), rs4402960 (b = -0.057, p =... | DisGeNET | Detail |
| The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A, GCK), rs5219 (E23K,... | DisGeNET | Detail |
| The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A, GCK), rs5219 (E23K,... | DisGeNET | Detail |
| The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A, GCK), rs5219 (E23K,... | DisGeNET | Detail |
| The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A, GCK), rs5219 (E23K,... | DisGeNET | Detail |
| The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A, GCK), rs5219 (E23K,... | DisGeNET | Detail |
| Besides confirming seven established T2D loci (CDKAL1, CDKN2A/B, KCNQ1, CDC123, GLIS3, HNF1B, and DU... | DisGeNET | Detail |
| We showed association of the minor allele C of rs10946398 (Odds Ratio (OR) = 1.21, 95% CI = 1.04-1.4... | DisGeNET | Detail |
| We showed association of the minor allele C of rs10946398 (Odds Ratio (OR) = 1.21, 95% CI = 1.04-1.4... | DisGeNET | Detail |
| In this study, we asked whether the co-occurrence of risk alleles in or near five genes modulating i... | DisGeNET | Detail |
| In this study, we asked whether the co-occurrence of risk alleles in or near five genes modulating i... | DisGeNET | Detail |
| In this study, we asked whether the co-occurrence of risk alleles in or near five genes modulating i... | DisGeNET | Detail |
| In this study, we asked whether the co-occurrence of risk alleles in or near five genes modulating i... | DisGeNET | Detail |
| In this study, we asked whether the co-occurrence of risk alleles in or near five genes modulating i... | DisGeNET | Detail |
| In this study, we asked whether the co-occurrence of risk alleles in or near five genes modulating i... | DisGeNET | Detail |
| A further analysis revealed gender-specific effects: the TCF7L2_rs7903146_T allele was associated wi... | DisGeNET | Detail |
| A further analysis revealed gender-specific effects: the TCF7L2_rs7903146_T allele was associated wi... | DisGeNET | Detail |
| A further analysis revealed gender-specific effects: the TCF7L2_rs7903146_T allele was associated wi... | DisGeNET | Detail |
| A further analysis revealed gender-specific effects: the TCF7L2_rs7903146_T allele was associated wi... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs7754840 dbSNP
- Genome
- hg19
- Position
- chr6:20,661,250-20,661,250
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
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