chr11:2684113:A>T Detail (hg38) (KCNQ1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:2,705,343-2,705,343 View the variant detail on this assembly version. |
| hg38 | chr11:2,684,113-2,684,113 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000218.2:c.1514+22032A>T | |
| NM_181798.1:c.1133+22032A>T | ||
| Ensemble | ENST00000155840.12:c.1514+22032A>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.844 | |
| 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 |
|---|---|---|---|---|---|
| 0.336 | Diabetes Mellitus, Non-Insulin-Dependent | Meta-analysis of genome-wide association studies in African Americans provides i... | GWASCAT | 25102180 | Detail |
| 0.120 | Diabetes Mellitus, Non-Insulin-Dependent | Meta-analysis of genome-wide association studies in African Americans provides i... | GWASCAT | 25102180 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Meta-analysis of genome-wide association studies in African Americans provides insights into the gen... | DisGeNET | Detail |
| Meta-analysis of genome-wide association studies in African Americans provides insights into the gen... | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs231356 dbSNP
- Genome
- hg38
- Position
- chr11:2,684,113-2,684,113
- Variant Type
- snv
- Reference Allele
- A
- 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))
- rs231356
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.8441
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 14146
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
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