chr2:25393254:C>T Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:25,393,254-25,393,254 |
| hg38 | chr2:25,170,385-25,170,385 View the variant detail on this assembly version. |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.269 | |
| 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 | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | Chronic schizophrenia | Five CART single nucleotide polymorphisms (SNPs) (rs10515115, rs3763153, rs38573... | BeFree | 24564533 | Detail |
| <0.001 | Chronic schizophrenia | Five CART single nucleotide polymorphisms (SNPs) (rs10515115, rs3763153, rs38573... | BeFree | 24564533 | Detail |
| <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 |
|---|---|---|
| Five CART single nucleotide polymorphisms (SNPs) (rs10515115, rs3763153, rs3857384, rs11575893, rs16... | DisGeNET | Detail |
| Five CART single nucleotide polymorphisms (SNPs) (rs10515115, rs3763153, rs3857384, rs11575893, rs16... | DisGeNET | Detail |
| 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 |
- Gene
- -
- dbSNP
- rs3754860 dbSNP
- Genome
- hg19
- Position
- chr2:25,393,254-25,393,254
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- 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))
- rs3754860
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.2686
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 4502
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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