chr2:27650459:C>G Detail (hg38) (GPN1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:27,873,326-27,873,326 View the variant detail on this assembly version. |
| hg38 | chr2:27,650,459-27,650,459 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001145048.1:c.*259C>G | |
| NM_001145049.1:c.*259C>G | ||
| NM_007266.3:c.*259C>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.497 | |
| 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 |
|---|---|---|---|---|---|
| 0.006 | Diabetes Mellitus, Non-Insulin-Dependent | In 509 GAD-negative patients with newly diagnosed type 2 diabetes, we 1) genotyp... | BeFree | 21411509 | Detail |
| 0.012 | Kidney Diseases | In 509 GAD-negative patients with newly diagnosed type 2 diabetes, we 1) genotyp... | BeFree | 21411509 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| In 509 GAD-negative patients with newly diagnosed type 2 diabetes, we 1) genotyped six single nucleo... | DisGeNET | Detail |
| In 509 GAD-negative patients with newly diagnosed type 2 diabetes, we 1) genotyped six single nucleo... | 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
- rs8731 dbSNP
- Genome
- hg38
- Position
- chr2:27,650,459-27,650,459
- Variant Type
- snv
- Reference Allele
- C
- 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))
- rs8731
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4971
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 8332
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
Genome browser