chr7:150706383:C>T Detail (hg19) (NOS3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:150,706,383-150,706,383 |
| hg38 | chr7:151,009,295-151,009,295 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000603.4:c.2324+28C>T | |
| Ensemble | ENST00000297494.8:c.2324+28C>T | |
| ENST00000461406.5:c.1706+28C>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
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 |
|---|---|---|---|---|---|
| 0.014 | Endothelial dysfunction | Measures of glucose tolerance, insulin sensitivity, markers of endothelial dysfu... | BeFree | 18349107 | Detail |
| 0.002 | coronary artery disease | We previously reported the genetic association between NOS3 rs753482-A>C poly... | BeFree | 24302629 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Measures of glucose tolerance, insulin sensitivity, markers of endothelial dysfunction, forearm vaso... | DisGeNET | Detail |
| We previously reported the genetic association between NOS3 rs753482-A>C polymorphism on intron 1... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- Genome
- hg19
- Position
- chr7:150,706,383-150,706,383
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 7044
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 98768
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 0
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.0124736756844321E-5
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