chr2:25168232:G>C Detail (hg38) (POMC)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:25,391,101-25,391,101 View the variant detail on this assembly version. |
| hg38 | chr2:25,168,232-25,168,232 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001035256.2:c.-71+266C>G | |
| NM_001319204.1:c.-71+266C>G | ||
| NM_000939.3:c.-51+266C>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.032 | |
| 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 |
|---|---|---|---|---|---|
| <0.001 | congestive heart failure | The aim of this study was to investigate the possible associations of defined va... | BeFree | 19337797 | Detail |
| 0.001 | congestive heart failure | The aim of this study was to investigate the possible associations of defined va... | BeFree | 19337797 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| The aim of this study was to investigate the possible associations of defined variability in leptin ... | DisGeNET | Detail |
| The aim of this study was to investigate the possible associations of defined variability in leptin ... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs1009388 dbSNP
- Genome
- hg38
- Position
- chr2:25,168,232-25,168,232
- Variant Type
- snv
- Reference Allele
- G
- 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))
- rs1009388
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0322
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 539
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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