chr11:2857194:A>C Detail (hg19) (KCNQ1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:2,857,194-2,857,194 |
| hg38 | chr11:2,835,964-2,835,964 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_181798.1:c.1414-11803A>C | |
| NM_000218.2:c.1795-11803A>C | ||
| Ensemble | ENST00000713725.1:c.1654-11803A>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.348 | |
| 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 |
|---|---|---|---|---|---|
| 0.004 | pancreatic carcinoma | We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADI... | BeFree | 25516658 | Detail |
| <0.001 | pancreatic carcinoma | We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADI... | BeFree | 25516658 | Detail |
| <0.001 | pancreatic carcinoma | We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADI... | BeFree | 25516658 | Detail |
| <0.001 | Malignant neoplasm of pancreas | We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADI... | BeFree | 25516658 | Detail |
| <0.001 | Malignant neoplasm of pancreas | We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADI... | BeFree | 25516658 | Detail |
| <0.001 | Malignant neoplasm of pancreas | We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADI... | BeFree | 25516658 | Detail |
| 0.003 | Malignant neoplasm of pancreas | We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADI... | BeFree | 25516658 | Detail |
| <0.001 | pancreatic carcinoma | We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADI... | BeFree | 25516658 | Detail |
| <0.001 | Malignant neoplasm of pancreas | We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADI... | BeFree | 25516658 | Detail |
| <0.001 | pancreatic carcinoma | We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADI... | BeFree | 25516658 | 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 |
| 0.336 | Diabetes Mellitus, Non-Insulin-Dependent | The present study evaluated the effects of KCNQ1 rs2237892 and rs2237895 polymor... | BeFree | 22414228 | 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 |
| 0.374 | 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 |
| <0.001 | Malignant neoplasm of pancreas | In contrast, rs2237895 in the KCNQ1 gene was inversely related to pancreatic can... | BeFree | 25516658 | Detail |
| <0.001 | pancreatic carcinoma | In contrast, rs2237895 in the KCNQ1 gene was inversely related to pancreatic can... | BeFree | 25516658 | Detail |
| 0.336 | Diabetes Mellitus, Non-Insulin-Dependent | The type 2 diabetes associated minor allele of rs2237895 KCNQ1 associates with r... | BeFree | 19516902 | Detail |
| 0.374 | Diabetes Mellitus, Non-Insulin-Dependent | The minor C-allele of rs2237895 of KCNQ1, which has a prevalence of about 42% am... | BeFree | 19516902 | Detail |
| 0.336 | Diabetes Mellitus, Non-Insulin-Dependent | [By identifying two novel genetic susceptibility loci in a Han Chinese populatio... | GAD | 20174558 | Detail |
| 0.024 | gestational diabetes | In the analyses of the GDM-related phenotype, only the risk allele of KCNQ1 rs22... | BeFree | 19850681 | Detail |
| 0.336 | Diabetes Mellitus, Non-Insulin-Dependent | By identifying two novel genetic susceptibility loci in a Han Chinese population... | GWASCAT | 20174558 | Detail |
| 0.336 | Diabetes Mellitus, Non-Insulin-Dependent | Variants in the KCNQ1 (rs2237895, p = 0.0012), HHEX (rs1111875, p = 0.0024 in Fi... | BeFree | 24906951 | Detail |
| 0.214 | Diabetes Mellitus, Non-Insulin-Dependent | Variants in the KCNQ1 (rs2237895, p = 0.0012), HHEX (rs1111875, p = 0.0024 in Fi... | BeFree | 24906951 | Detail |
| 0.290 | Diabetes Mellitus, Non-Insulin-Dependent | Variants in the KCNQ1 (rs2237895, p = 0.0012), HHEX (rs1111875, p = 0.0024 in Fi... | BeFree | 24906951 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADIPOQ (rs1501299), ADR... | DisGeNET | Detail |
| We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADIPOQ (rs1501299), ADR... | DisGeNET | Detail |
| We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADIPOQ (rs1501299), ADR... | DisGeNET | Detail |
| We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADIPOQ (rs1501299), ADR... | DisGeNET | Detail |
| We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADIPOQ (rs1501299), ADR... | DisGeNET | Detail |
| We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADIPOQ (rs1501299), ADR... | DisGeNET | Detail |
| We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADIPOQ (rs1501299), ADR... | DisGeNET | Detail |
| We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADIPOQ (rs1501299), ADR... | DisGeNET | Detail |
| We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADIPOQ (rs1501299), ADR... | DisGeNET | Detail |
| We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADIPOQ (rs1501299), ADR... | 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 |
| The present study evaluated the effects of KCNQ1 rs2237892 and rs2237895 polymorphisms on repaglinid... | 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 |
| 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 contrast, rs2237895 in the KCNQ1 gene was inversely related to pancreatic cancer risk, with a mul... | DisGeNET | Detail |
| In contrast, rs2237895 in the KCNQ1 gene was inversely related to pancreatic cancer risk, with a mul... | DisGeNET | Detail |
| The type 2 diabetes associated minor allele of rs2237895 KCNQ1 associates with reduced insulin relea... | DisGeNET | Detail |
| The minor C-allele of rs2237895 of KCNQ1, which has a prevalence of about 42% among Caucasians was a... | DisGeNET | Detail |
| [By identifying two novel genetic susceptibility loci in a Han Chinese population and confirming the... | DisGeNET | Detail |
| In the analyses of the GDM-related phenotype, only the risk allele of KCNQ1 rs2237895 was significan... | DisGeNET | Detail |
| By identifying two novel genetic susceptibility loci in a Han Chinese population and confirming the ... | DisGeNET | Detail |
| Variants in the KCNQ1 (rs2237895, p = 0.0012), HHEX (rs1111875, p = 0.0024 in Finns) and MTNR1B (rs1... | DisGeNET | Detail |
| Variants in the KCNQ1 (rs2237895, p = 0.0012), HHEX (rs1111875, p = 0.0024 in Finns) and MTNR1B (rs1... | DisGeNET | Detail |
| Variants in the KCNQ1 (rs2237895, p = 0.0012), HHEX (rs1111875, p = 0.0024 in Finns) and MTNR1B (rs1... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs2237895 dbSNP
- Genome
- hg19
- Position
- chr11:2,857,194-2,857,194
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
- 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))
- rs2237895
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3484
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5839
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
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