chr11:2818521:C>T Detail (hg38) (KCNQ1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:2,839,751-2,839,751 View the variant detail on this assembly version. |
| hg38 | chr11:2,818,521-2,818,521 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000218.2:c.1795-29246C>T | |
| NM_181798.1:c.1414-29246C>T | ||
| Ensemble | ENST00000155840.12:c.1795-29246C>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.396 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.014 | gestational diabetes | Association with GDM was found for two of the most frequently replicated T2D loc... | BeFree | 25973943 | Detail |
| 0.008 | obesity | In the present study, we examined the association between variants in fat mass- ... | BeFree | 25501231 | Detail |
| 0.791 | obesity | In the present study, we examined the association between variants in fat mass- ... | BeFree | 25501231 | Detail |
| 0.336 | Diabetes Mellitus, Non-Insulin-Dependent | Seven of the 29 single nucleotide polymorphisms (SNPs) examined were found to be... | BeFree | 23144361 | Detail |
| 0.452 | Diabetes Mellitus, Non-Insulin-Dependent | Seven of the 29 single nucleotide polymorphisms (SNPs) examined were found to be... | BeFree | 23144361 | Detail |
| 0.614 | Diabetes Mellitus, Non-Insulin-Dependent | Seven of the 29 single nucleotide polymorphisms (SNPs) examined were found to be... | BeFree | 23144361 | Detail |
| 0.327 | Diabetes Mellitus, Non-Insulin-Dependent | Seven of the 29 single nucleotide polymorphisms (SNPs) examined were found to be... | BeFree | 23144361 | Detail |
| 0.336 | Diabetes Mellitus, Non-Insulin-Dependent | KCNQ1 rs2237892 C→T gene polymorphism and type 2 diabetes mellitus in the Asian ... | BeFree | 24373634 | Detail |
| <0.001 | Diabetes Mellitus, Non-Insulin-Dependent | COL8A1 rs792837 (P=2.9 × 10(-9)), KCNQ1 rs2237892 (P=1.8 × 10(-18)) and rs223789... | BeFree | 24145053 | Detail |
| 0.295 | diabetes mellitus | No association with measures of insulin release were identified for the less com... | BeFree | 19516902 | Detail |
| 0.336 | Diabetes Mellitus, Non-Insulin-Dependent | The present study evaluated the effects of KCNQ1 rs2237892 and rs2237895 polymor... | BeFree | 22414228 | Detail |
| 0.336 | Diabetes Mellitus, Non-Insulin-Dependent | Confirmation of multiple risk Loci and genetic impacts by a genome-wide associat... | GWASCAT | 19401414 | Detail |
| 0.336 | Diabetes Mellitus, Non-Insulin-Dependent | Genome-wide association study identifies three novel loci for type 2 diabetes. | GWASCAT | 23945395 | Detail |
| 0.336 | Diabetes Mellitus, Non-Insulin-Dependent | Besides confirming seven established T2D loci (CDKAL1, CDKN2A/B, KCNQ1, CDC123, ... | GWASCAT | 22961080 | Detail |
| <0.001 | Diabetes Mellitus, Non-Insulin-Dependent | SNPs rs2237897, rs2237892, and rs2283228 were significantly associated with type... | BeFree | 19252135 | Detail |
| 0.080 | Diabetes | No association with measures of insulin release were identified for the less com... | BeFree | 19516902 | Detail |
| 0.003 | Diabetes Mellitus, Non-Insulin-Dependent | COL8A1 rs792837 (P=2.9 × 10(-9)), KCNQ1 rs2237892 (P=1.8 × 10(-18)) and rs223789... | BeFree | 24145053 | Detail |
| 0.336 | Diabetes Mellitus, Non-Insulin-Dependent | COL8A1 rs792837 (P=2.9 × 10(-9)), KCNQ1 rs2237892 (P=1.8 × 10(-18)) and rs223789... | BeFree | 24145053 | Detail |
| 0.336 | Diabetes Mellitus, Non-Insulin-Dependent | [We observed numerous regions with suggestive associations with type 2 diabetes.... | GAD | 21573907 | Detail |
| 0.336 | Diabetes Mellitus, Non-Insulin-Dependent | Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus... | GWASCAT | 18711367 | Detail |
| 0.374 | Diabetes Mellitus, Non-Insulin-Dependent | Four single nucleotide polymorphisms (SNPs) (rs2237892, rs2237895, rs2237897, an... | BeFree | 20701788 | Detail |
| 0.329 | Diabetes Mellitus, Non-Insulin-Dependent | COL8A1 rs792837 (P=2.9 × 10(-9)), KCNQ1 rs2237892 (P=1.8 × 10(-18)) and rs223789... | BeFree | 24145053 | Detail |
| 0.336 | Diabetes Mellitus, Non-Insulin-Dependent | Four single nucleotide polymorphisms (SNPs) (rs2237892, rs2237895, rs2237897, an... | BeFree | 20701788 | Detail |
| 0.214 | Diabetes Mellitus, Non-Insulin-Dependent | In Chinese Han, we replicated the associations between 7 genetic loci and T2D, w... | BeFree | 20509872 | Detail |
| 0.083 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
| 0.393 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
| 0.090 | Diabetes Mellitus, Non-Insulin-Dependent | The G allele of rs1111875 (OR = 1.43, 95% CI = 1.18-1.72, p = 1.8 x 10(-4)) in H... | BeFree | 18991055 | Detail |
| 0.466 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
| 0.090 | Diabetes Mellitus, Non-Insulin-Dependent | Association to type 2 diabetes was found for rs13266634 (SLC30A8), rs7923837 (HH... | BeFree | 22923468 | Detail |
| 0.614 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
| 0.214 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
| 0.340 | Diabetes Mellitus, Non-Insulin-Dependent | In Chinese Han, we replicated the associations between 7 genetic loci and T2D, w... | BeFree | 20509872 | Detail |
| 0.340 | Diabetes Mellitus, Non-Insulin-Dependent | We found that CDKAL1 (rs7756992), SLC30A8 (rs13266634, rs2466293), CDKN2A/2B (rs... | BeFree | 21103332 | Detail |
| 0.336 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
| 0.314 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
| 0.452 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
| 0.090 | Diabetes Mellitus, Non-Insulin-Dependent | We found that CDKAL1 (rs7756992), SLC30A8 (rs13266634, rs2466293), CDKN2A/2B (rs... | BeFree | 21103332 | Detail |
| 0.090 | Diabetes Mellitus, Non-Insulin-Dependent | In Chinese Han, we replicated the associations between 7 genetic loci and T2D, w... | BeFree | 20509872 | Detail |
| 0.290 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
| 0.421 | Diabetes Mellitus, Non-Insulin-Dependent | We found that CDKAL1 (rs7756992), SLC30A8 (rs13266634, rs2466293), CDKN2A/2B (rs... | BeFree | 21103332 | Detail |
| 0.296 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
| 0.003 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
| 0.090 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
| 0.042 | Diabetes Mellitus, Non-Insulin-Dependent | Association to type 2 diabetes was found for rs13266634 (SLC30A8), rs7923837 (HH... | BeFree | 22923468 | Detail |
| 0.341 | Diabetes Mellitus, Non-Insulin-Dependent | In Chinese Han, we replicated the associations between 7 genetic loci and T2D, w... | BeFree | 20509872 | Detail |
| 0.336 | Diabetes Mellitus, Non-Insulin-Dependent | Association to type 2 diabetes was found for rs13266634 (SLC30A8), rs7923837 (HH... | BeFree | 22923468 | Detail |
| 0.341 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
| 0.336 | Diabetes Mellitus, Non-Insulin-Dependent | We found that CDKAL1 (rs7756992), SLC30A8 (rs13266634, rs2466293), CDKN2A/2B (rs... | BeFree | 21103332 | Detail |
| 0.181 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
| 0.421 | Diabetes Mellitus, Non-Insulin-Dependent | In Chinese Han, we replicated the associations between 7 genetic loci and T2D, w... | BeFree | 20509872 | Detail |
| 0.057 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
| 0.017 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
| 0.032 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
| 0.176 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
| 0.336 | Diabetes Mellitus, Non-Insulin-Dependent | In Chinese Han, we replicated the associations between 7 genetic loci and T2D, w... | BeFree | 20509872 | Detail |
| 0.293 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
| 0.340 | Diabetes Mellitus, Non-Insulin-Dependent | Association to type 2 diabetes was found for rs13266634 (SLC30A8), rs7923837 (HH... | BeFree | 22923468 | Detail |
| 0.452 | Diabetes Mellitus, Non-Insulin-Dependent | In Chinese Han, we replicated the associations between 7 genetic loci and T2D, w... | BeFree | 20509872 | Detail |
| 0.452 | Diabetes Mellitus, Non-Insulin-Dependent | Association to type 2 diabetes was found for rs13266634 (SLC30A8), rs7923837 (HH... | BeFree | 22923468 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Association with GDM was found for two of the most frequently replicated T2D loci: a TCF7L2 haplotyp... | DisGeNET | Detail |
| In the present study, we examined the association between variants in fat mass- and obesity-associat... | DisGeNET | Detail |
| In the present study, we examined the association between variants in fat mass- and obesity-associat... | DisGeNET | Detail |
| Seven of the 29 single nucleotide polymorphisms (SNPs) examined were found to be associated with T2D... | DisGeNET | Detail |
| Seven of the 29 single nucleotide polymorphisms (SNPs) examined were found to be associated with T2D... | DisGeNET | Detail |
| Seven of the 29 single nucleotide polymorphisms (SNPs) examined were found to be associated with T2D... | DisGeNET | Detail |
| Seven of the 29 single nucleotide polymorphisms (SNPs) examined were found to be associated with T2D... | DisGeNET | Detail |
| KCNQ1 rs2237892 C→T gene polymorphism and type 2 diabetes mellitus in the Asian population: a meta-a... | DisGeNET | Detail |
| COL8A1 rs792837 (P=2.9 × 10(-9)), KCNQ1 rs2237892 (P=1.8 × 10(-18)) and rs2237895 (P=0.002), ALX4 rs... | DisGeNET | Detail |
| No association with measures of insulin release were identified for the less common diabetes risk al... | DisGeNET | Detail |
| The present study evaluated the effects of KCNQ1 rs2237892 and rs2237895 polymorphisms on repaglinid... | DisGeNET | Detail |
| Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 ... | DisGeNET | Detail |
| Genome-wide association study identifies three novel loci for type 2 diabetes. | DisGeNET | Detail |
| Besides confirming seven established T2D loci (CDKAL1, CDKN2A/B, KCNQ1, CDC123, GLIS3, HNF1B, and DU... | DisGeNET | Detail |
| SNPs rs2237897, rs2237892, and rs2283228 were significantly associated with type 2 diabetes (odds ra... | DisGeNET | Detail |
| No association with measures of insulin release were identified for the less common diabetes risk al... | DisGeNET | Detail |
| COL8A1 rs792837 (P=2.9 × 10(-9)), KCNQ1 rs2237892 (P=1.8 × 10(-18)) and rs2237895 (P=0.002), ALX4 rs... | DisGeNET | Detail |
| COL8A1 rs792837 (P=2.9 × 10(-9)), KCNQ1 rs2237892 (P=1.8 × 10(-18)) and rs2237895 (P=0.002), ALX4 rs... | DisGeNET | Detail |
| [We observed numerous regions with suggestive associations with type 2 diabetes. Some of these signa... | DisGeNET | Detail |
| Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus. | DisGeNET | Detail |
| Four single nucleotide polymorphisms (SNPs) (rs2237892, rs2237895, rs2237897, and rs2283228) in KCNQ... | DisGeNET | Detail |
| COL8A1 rs792837 (P=2.9 × 10(-9)), KCNQ1 rs2237892 (P=1.8 × 10(-18)) and rs2237895 (P=0.002), ALX4 rs... | DisGeNET | Detail |
| Four single nucleotide polymorphisms (SNPs) (rs2237892, rs2237895, rs2237897, and rs2283228) in KCNQ... | DisGeNET | Detail |
| In Chinese Han, we replicated the associations between 7 genetic loci and T2D, with risk allele-spec... | DisGeNET | Detail |
| To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
| To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
| The G allele of rs1111875 (OR = 1.43, 95% CI = 1.18-1.72, p = 1.8 x 10(-4)) in HHEX), the T allele o... | DisGeNET | Detail |
| To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
| Association to type 2 diabetes was found for rs13266634 (SLC30A8), rs7923837 (HHEX), rs10811661 (CDK... | DisGeNET | Detail |
| To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
| To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
| In Chinese Han, we replicated the associations between 7 genetic loci and T2D, with risk allele-spec... | DisGeNET | Detail |
| We found that CDKAL1 (rs7756992), SLC30A8 (rs13266634, rs2466293), CDKN2A/2B (rs10811661) and KCNQ1 ... | DisGeNET | Detail |
| To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
| To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
| To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
| We found that CDKAL1 (rs7756992), SLC30A8 (rs13266634, rs2466293), CDKN2A/2B (rs10811661) and KCNQ1 ... | DisGeNET | Detail |
| In Chinese Han, we replicated the associations between 7 genetic loci and T2D, with risk allele-spec... | DisGeNET | Detail |
| To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
| We found that CDKAL1 (rs7756992), SLC30A8 (rs13266634, rs2466293), CDKN2A/2B (rs10811661) and KCNQ1 ... | DisGeNET | Detail |
| To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
| To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
| To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
| Association to type 2 diabetes was found for rs13266634 (SLC30A8), rs7923837 (HHEX), rs10811661 (CDK... | DisGeNET | Detail |
| In Chinese Han, we replicated the associations between 7 genetic loci and T2D, with risk allele-spec... | DisGeNET | Detail |
| Association to type 2 diabetes was found for rs13266634 (SLC30A8), rs7923837 (HHEX), rs10811661 (CDK... | DisGeNET | Detail |
| To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
| We found that CDKAL1 (rs7756992), SLC30A8 (rs13266634, rs2466293), CDKN2A/2B (rs10811661) and KCNQ1 ... | DisGeNET | Detail |
| To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
| In Chinese Han, we replicated the associations between 7 genetic loci and T2D, with risk allele-spec... | DisGeNET | Detail |
| To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
| To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
| To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
| To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
| In Chinese Han, we replicated the associations between 7 genetic loci and T2D, with risk allele-spec... | DisGeNET | Detail |
| To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
| Association to type 2 diabetes was found for rs13266634 (SLC30A8), rs7923837 (HHEX), rs10811661 (CDK... | DisGeNET | Detail |
| In Chinese Han, we replicated the associations between 7 genetic loci and T2D, with risk allele-spec... | DisGeNET | Detail |
| Association to type 2 diabetes was found for rs13266634 (SLC30A8), rs7923837 (HHEX), rs10811661 (CDK... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs2237892 dbSNP
- Genome
- hg38
- Position
- chr11:2,818,521-2,818,521
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- 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))
- rs2237892
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3955
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 6628
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
Genome browser