chr11:2825839:T>G Detail (hg38) (KCNQ1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:2,847,069-2,847,069 View the variant detail on this assembly version. |
| hg38 | chr11:2,825,839-2,825,839 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000218.2:c.1795-21928T>G | |
| NM_181798.1:c.1414-21928T>G | ||
| Ensemble | ENST00000155840.12:c.1795-21928T>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.418 | |
| 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 |
| 0.336 | Diabetes Mellitus, Non-Insulin-Dependent | Genome-wide trans-ancestry meta-analysis provides insight into the genetic archi... | GWASCAT | 24509480 | 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 |
| Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 di... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs163184 dbSNP
- Genome
- hg38
- Position
- chr11:2,825,839-2,825,839
- Variant Type
- snv
- Reference Allele
- T
- 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))
- rs163184
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4177
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 6999
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
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