chr6:32337686:A>G Detail (hg19) (TSBP1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:32,337,686-32,337,686 |
| hg38 | chr6:32,369,909-32,369,909 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_006781.4:c.88T>C | NP_006772.3:p.Cys30Arg |
| NM_001286475.1:c.88T>C | NP_001273404.1:p.Cys30Arg | |
| NM_001286474.1:c.88T>C | NP_001273403.1:p.Cys30Arg |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.983 |
| ToMMo:0.985 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.860 |
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 |
|---|---|---|---|---|---|
| 0.007 | Diabetes Mellitus, Insulin-Dependent | NA | GAD | Detail |
Annotation
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
- -
- Genome
- hg19
- Position
- chr6:32,337,686-32,337,686
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1164
- Mean of sample read depth (HGVD)
- 21.31
- Standard deviation of sample read depth (HGVD)
- 37.61
- Number of reference allele (HGVD)
- 39
- Number of alternative allele (HGVD)
- 2289
- Allele Frequency (HGVD)
- 0.9832474226804123
- Gene Symbol (HGVD)
- C6orf10
- 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))
- rs3129941
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.9847
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16504
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8516
- East Asian Allele Counts (ExAC)
- 7326
- East Asian Heterozygous Counts (ExAC)
- 962
- East Asian Homozygous Counts (ExAC)
- 3182
- East Asian Allele Frequency (ExAC)
- 0.8602630342883983
- Chromosome Counts in All Race (ExAC)
- 116220
- Allele Counts in All Race (ExAC)
- 94434
- Heterozygous Counts in All Race (ExAC)
- 17174
- Homozygous Counts in All Race (ExAC)
- 38630
- Allele Frequency in All Race (ExAC)
- 0.8125451729478576
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