chr2:241531117:A>C Detail (hg19) (CAPN10)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:241,531,117-241,531,117 |
| hg38 | chr2:240,591,700-240,591,700 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_023085.3:c.471-233A>C | |
| NM_023083.3:c.471-233A>C | ||
| Ensemble | ENST00000270364.11:c.273+2226A>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.014 | |
| 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 |
|---|---|---|---|---|---|
| 0.447 | Diabetes Mellitus, Non-Insulin-Dependent | Sib-TDT analysis showed that some gene variants were significantly associated wi... | BeFree | 24993573 | Detail |
| 0.466 | Diabetes Mellitus, Non-Insulin-Dependent | Sib-TDT analysis showed that some gene variants were significantly associated wi... | BeFree | 24993573 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Sib-TDT analysis showed that some gene variants were significantly associated with T2D risk but didn... | DisGeNET | Detail |
| Sib-TDT analysis showed that some gene variants were significantly associated with T2D risk but didn... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs41266971 dbSNP
- Genome
- hg19
- Position
- chr2:241,531,117-241,531,117
- 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))
- rs41266971
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.014
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 235
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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