chr6:20679478:A>G Detail (hg38) (CDKAL1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:20,679,709-20,679,709 View the variant detail on this assembly version. |
| hg38 | chr6:20,679,478-20,679,478 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_017774.3:c.371+30101A>G | |
| Ensemble | ENST00000274695.8:c.371+30101A>G | |
| ENST00000378610.1:c.371+30101A>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.461 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Uncertain significance
|
2014-09-01 | no assertion criteria provided | type 2 diabetes mellitus |
germline
|
Detail |
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 |
| 0.421 | Diabetes Mellitus, Non-Insulin-Dependent | Individuals carrying T2D risk alleles of CDKAL1 or SLC30A8 had lower fasting pla... | BeFree | 18210030 | Detail |
| 0.374 | Diabetes Mellitus, Non-Insulin-Dependent | Individuals carrying T2D risk alleles of CDKAL1 or SLC30A8 had lower fasting pla... | BeFree | 18210030 | Detail |
| 0.018 | Diabetes | T2D-related variants HHEX rs7923837, TCF7L2 rs290481 and CDKAL1 rs7756992 increa... | BeFree | 24468095 | Detail |
| 0.002 | Diabetes | T2D-related variants HHEX rs7923837, TCF7L2 rs290481 and CDKAL1 rs7756992 increa... | BeFree | 24468095 | Detail |
| 0.015 | diabetes mellitus | T2D-related variants HHEX rs7923837, TCF7L2 rs290481 and CDKAL1 rs7756992 increa... | BeFree | 24468095 | Detail |
| 0.045 | diabetes mellitus | T2D-related variants HHEX rs7923837, TCF7L2 rs290481 and CDKAL1 rs7756992 increa... | BeFree | 24468095 | Detail |
| 0.011 | diabetes mellitus | T2D-related variants HHEX rs7923837, TCF7L2 rs290481 and CDKAL1 rs7756992 increa... | BeFree | 24468095 | Detail |
| 0.004 | Diabetes | T2D-related variants HHEX rs7923837, TCF7L2 rs290481 and CDKAL1 rs7756992 increa... | BeFree | 24468095 | Detail |
| 0.002 | Diabetes | Meta-analysis indicated significant association between the IGF2BP2 rs4402960 an... | BeFree | 24898818 | Detail |
| 0.015 | diabetes mellitus | Meta-analysis indicated significant association between the IGF2BP2 rs4402960 an... | BeFree | 24898818 | Detail |
| <0.001 | Cardiovascular Diseases | In this study, we investigated the association of the rs7756992 of CDKAL1 and th... | BeFree | 24636221 | Detail |
| <0.001 | Hypertensive disease | Contribution of CDKAL1 rs7756992 and IGF2BP2 rs4402960 polymorphisms in type 2 d... | BeFree | 24636221 | Detail |
| 0.421 | Diabetes Mellitus, Non-Insulin-Dependent | In this study, we investigated the association of the rs7756992 of CDKAL1 and th... | BeFree | 24636221 | Detail |
| 0.452 | Diabetes Mellitus, Non-Insulin-Dependent | Contribution of CDKAL1 rs7756992 and IGF2BP2 rs4402960 polymorphisms in type 2 d... | BeFree | 24636221 | Detail |
| 0.004 | Diabetes | Meta-analysis indicated significant association between the IGF2BP2 rs4402960 an... | BeFree | 24898818 | Detail |
| <0.001 | Hypertensive disease | Contribution of CDKAL1 rs7756992 and IGF2BP2 rs4402960 polymorphisms in type 2 d... | BeFree | 24636221 | Detail |
| <0.001 | Cardiovascular Diseases | In this study, we investigated the association of the rs7756992 of CDKAL1 and th... | BeFree | 24636221 | Detail |
| 0.012 | diabetes mellitus | Meta-analysis indicated significant association between the IGF2BP2 rs4402960 an... | BeFree | 24898818 | Detail |
| 0.421 | Diabetes Mellitus, Non-Insulin-Dependent | Genome-wide trans-ancestry meta-analysis provides insight into the genetic archi... | GWASCAT | 24509480 | Detail |
| 0.421 | Diabetes Mellitus, Non-Insulin-Dependent | A cautionary tale: the non-causal association between type 2 diabetes risk SNP, ... | BeFree | 25634229 | Detail |
| 0.421 | Diabetes Mellitus, Non-Insulin-Dependent | A variant in CDKAL1 influences insulin response and risk of type 2 diabetes. | GWASCAT | 17460697 | Detail |
| <0.001 | Diabetic Nephropathy | Interestingly, our data suggest that the rs7756992 of CDKAL1 gene have a protect... | BeFree | 24636221 | 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 | Taken together, our findings provide evidence for a significant contribution of ... | BeFree | 24012816 | Detail |
| 0.090 | Diabetes Mellitus, Non-Insulin-Dependent | In our case-control subjects, susceptibility to type 2 diabetes was replicated i... | BeFree | 19033397 | Detail |
| 0.083 | Diabetes Mellitus, Non-Insulin-Dependent | SNPs in other genes such as rs7756992 in CDKAL1, rs10811661 in CDKN2B and rs1326... | BeFree | 17928989 | Detail |
| 0.340 | Diabetes Mellitus, Non-Insulin-Dependent | We found that CDKAL1 (rs7756992), SLC30A8 (rs13266634, rs2466293), CDKN2A/2B (rs... | BeFree | 21103332 | 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 |
| 0.090 | Diabetes Mellitus, Non-Insulin-Dependent | We found that CDKAL1 (rs7756992), SLC30A8 (rs13266634, rs2466293), CDKN2A/2B (rs... | BeFree | 21103332 | 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 |
| 0.421 | Diabetes Mellitus, Non-Insulin-Dependent | We found that CDKAL1 (rs7756992), SLC30A8 (rs13266634, rs2466293), CDKN2A/2B (rs... | BeFree | 21103332 | Detail |
| 0.340 | Diabetes Mellitus, Non-Insulin-Dependent | SNPs in other genes such as rs7756992 in CDKAL1, rs10811661 in CDKN2B and rs1326... | BeFree | 17928989 | 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 | SNPs in other genes such as rs7756992 in CDKAL1, rs10811661 in CDKN2B and rs1326... | BeFree | 17928989 | 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 |
| 0.336 | Diabetes Mellitus, Non-Insulin-Dependent | We found that CDKAL1 (rs7756992), SLC30A8 (rs13266634, rs2466293), CDKN2A/2B (rs... | BeFree | 21103332 | 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 |
| 0.004 | 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 |
| 0.614 | Diabetes Mellitus, Non-Insulin-Dependent | Novel risk loci for type 2 diabetes, single nucleotide polymorphism (SNP) rs7756... | BeFree | 19718565 | Detail |
| 0.421 | Diabetes Mellitus, Non-Insulin-Dependent | Novel risk loci for type 2 diabetes, single nucleotide polymorphism (SNP) rs7756... | BeFree | 19718565 | Detail |
| 0.005 | Diabetes Mellitus, Non-Insulin-Dependent | Novel risk loci for type 2 diabetes, single nucleotide polymorphism (SNP) rs7756... | BeFree | 19718565 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_017774.3(CDKAL1):c.371+30101A>G AND Type 2 diabetes mellitus | ClinVar | 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 |
| Three SNPs-rs7756992 (P = .007), rs7754840 (P = .015), and rs6931514 (P = .029)-of the CDKAL1, rs702... | DisGeNET | Detail |
| Individuals carrying T2D risk alleles of CDKAL1 or SLC30A8 had lower fasting plasma insulin level (r... | DisGeNET | Detail |
| Individuals carrying T2D risk alleles of CDKAL1 or SLC30A8 had lower fasting plasma insulin level (r... | DisGeNET | Detail |
| T2D-related variants HHEX rs7923837, TCF7L2 rs290481 and CDKAL1 rs7756992 increased cancer risk in p... | DisGeNET | Detail |
| T2D-related variants HHEX rs7923837, TCF7L2 rs290481 and CDKAL1 rs7756992 increased cancer risk in p... | DisGeNET | Detail |
| T2D-related variants HHEX rs7923837, TCF7L2 rs290481 and CDKAL1 rs7756992 increased cancer risk in p... | DisGeNET | Detail |
| T2D-related variants HHEX rs7923837, TCF7L2 rs290481 and CDKAL1 rs7756992 increased cancer risk in p... | DisGeNET | Detail |
| T2D-related variants HHEX rs7923837, TCF7L2 rs290481 and CDKAL1 rs7756992 increased cancer risk in p... | DisGeNET | Detail |
| T2D-related variants HHEX rs7923837, TCF7L2 rs290481 and CDKAL1 rs7756992 increased cancer risk in p... | DisGeNET | Detail |
| Meta-analysis indicated significant association between the IGF2BP2 rs4402960 and CDKAL1 rs7756992 p... | DisGeNET | Detail |
| Meta-analysis indicated significant association between the IGF2BP2 rs4402960 and CDKAL1 rs7756992 p... | DisGeNET | Detail |
| In this study, we investigated the association of the rs7756992 of CDKAL1 and the rs4402960 of IGF2B... | DisGeNET | Detail |
| Contribution of CDKAL1 rs7756992 and IGF2BP2 rs4402960 polymorphisms in type 2 diabetes, diabetic co... | DisGeNET | Detail |
| In this study, we investigated the association of the rs7756992 of CDKAL1 and the rs4402960 of IGF2B... | DisGeNET | Detail |
| Contribution of CDKAL1 rs7756992 and IGF2BP2 rs4402960 polymorphisms in type 2 diabetes, diabetic co... | DisGeNET | Detail |
| Meta-analysis indicated significant association between the IGF2BP2 rs4402960 and CDKAL1 rs7756992 p... | DisGeNET | Detail |
| Contribution of CDKAL1 rs7756992 and IGF2BP2 rs4402960 polymorphisms in type 2 diabetes, diabetic co... | DisGeNET | Detail |
| In this study, we investigated the association of the rs7756992 of CDKAL1 and the rs4402960 of IGF2B... | DisGeNET | Detail |
| Meta-analysis indicated significant association between the IGF2BP2 rs4402960 and CDKAL1 rs7756992 p... | DisGeNET | Detail |
| Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 di... | DisGeNET | Detail |
| A cautionary tale: the non-causal association between type 2 diabetes risk SNP, rs7756992, and level... | DisGeNET | Detail |
| A variant in CDKAL1 influences insulin response and risk of type 2 diabetes. | DisGeNET | Detail |
| Interestingly, our data suggest that the rs7756992 of CDKAL1 gene have a protective effect against d... | 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 |
| Taken together, our findings provide evidence for a significant contribution of CDKN2A/B gene rs1081... | DisGeNET | Detail |
| In our case-control subjects, susceptibility to type 2 diabetes was replicated in TCF7L2 (rs12255372... | DisGeNET | Detail |
| SNPs in other genes such as rs7756992 in CDKAL1, rs10811661 in CDKN2B and rs13266634 in SLC30A8 show... | DisGeNET | Detail |
| We found that CDKAL1 (rs7756992), SLC30A8 (rs13266634, rs2466293), CDKN2A/2B (rs10811661) and KCNQ1 ... | 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 |
| We found that CDKAL1 (rs7756992), SLC30A8 (rs13266634, rs2466293), CDKN2A/2B (rs10811661) and KCNQ1 ... | 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 |
| We found that CDKAL1 (rs7756992), SLC30A8 (rs13266634, rs2466293), CDKN2A/2B (rs10811661) and KCNQ1 ... | DisGeNET | Detail |
| SNPs in other genes such as rs7756992 in CDKAL1, rs10811661 in CDKN2B and rs13266634 in SLC30A8 show... | DisGeNET | Detail |
| The risk alleles of the SNPs rs7756992 and rs7754840 in CDKAL1; rs10811661 in the CDKN2A-CDKN2B regi... | DisGeNET | Detail |
| SNPs in other genes such as rs7756992 in CDKAL1, rs10811661 in CDKN2B and rs13266634 in SLC30A8 show... | 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 |
| We found that CDKAL1 (rs7756992), SLC30A8 (rs13266634, rs2466293), CDKN2A/2B (rs10811661) and KCNQ1 ... | 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 |
| 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 |
| Novel risk loci for type 2 diabetes, single nucleotide polymorphism (SNP) rs7756992 in cyclin-depend... | DisGeNET | Detail |
| Novel risk loci for type 2 diabetes, single nucleotide polymorphism (SNP) rs7756992 in cyclin-depend... | DisGeNET | Detail |
| Novel risk loci for type 2 diabetes, single nucleotide polymorphism (SNP) rs7756992 in cyclin-depend... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs7756992 dbSNP
- Genome
- hg38
- Position
- chr6:20,679,478-20,679,478
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs7756992
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4615
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 7735
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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