chr2:164497202:C>T Detail (hg38) (GRB14)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:165,353,712-165,353,712 View the variant detail on this assembly version. |
| hg38 | chr2:164,497,202-164,497,202 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001303422.1:c.1294+9G>A | |
| NM_004490.2:c.1294+9G>A | ||
| Ensemble | ENST00000263915.8:c.1294+9G>A |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.394 |
| ToMMo:0.387 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.360 |
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 |
|---|---|---|---|---|---|
| 0.439 | obesity | Polymorphisms of the peroxisome proliferator-activated receptor-γ (rs1801282) an... | BeFree | 25928419 | Detail |
| 0.287 | Diabetes Mellitus, Non-Insulin-Dependent | In a large sample of the Caucasians the rs8192673 of the PGC-1α gene and the rs1... | BeFree | 25928419 | Detail |
| 0.393 | Diabetes Mellitus, Non-Insulin-Dependent | Polymorphisms of the peroxisome proliferator-activated receptor-γ (rs1801282) an... | BeFree | 25928419 | Detail |
| 0.102 | obesity | The aim of this study was to clarify whether common single nucleotide polymorphi... | BeFree | 25928419 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Polymorphisms of the peroxisome proliferator-activated receptor-γ (rs1801282) and its coactivator-1 ... | DisGeNET | Detail |
| In a large sample of the Caucasians the rs8192673 of the PGC-1α gene and the rs1801282 of the PPAR-γ... | DisGeNET | Detail |
| Polymorphisms of the peroxisome proliferator-activated receptor-γ (rs1801282) and its coactivator-1 ... | DisGeNET | Detail |
| The aim of this study was to clarify whether common single nucleotide polymorphisms (SNPs) of the Pe... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- Genome
- hg38
- Position
- chr2:164,497,202-164,497,202
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 106.59
- Standard deviation of sample read depth (HGVD)
- 47.92
- Number of reference allele (HGVD)
- 1467
- Number of alternative allele (HGVD)
- 953
- Allele Frequency (HGVD)
- 0.39380165289256197
- Gene Symbol (HGVD)
- GRB14
- East Asian Homozygous Counts (ExAC)
- 551
- 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))
- rs8192673
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3867
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 6481
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8620
- East Asian Allele Counts (ExAC)
- 3102
- East Asian Heterozygous Counts (ExAC)
- 2000
- East Asian Allele Frequency (ExAC)
- 0.35986078886310907
- Chromosome Counts in All Race (ExAC)
- 121150
- Allele Counts in All Race (ExAC)
- 81353
- Heterozygous Counts in All Race (ExAC)
- 25065
- Homozygous Counts in All Race (ExAC)
- 28144
- Allele Frequency in All Race (ExAC)
- 0.6715063970284771
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