chr7:150706915:G>A Detail (hg19) (NOS3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:150,706,915-150,706,915 |
| hg38 | chr7:151,009,827-151,009,827 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000603.4:c.2512+242G>A | |
| Ensemble | ENST00000297494.8:c.2512+242G>A | |
| ENST00000461406.5:c.1894+242G>A |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.853 | |
| 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 | Pediatric Obesity | However, no study has tested the hypothesis that NOS3 tagSNPs rs3918226, rs39181... | BeFree | 24943287 | Detail |
| 0.001 | Migraine Disorders | We found a significant interaction between eNOS rs743506 and iNOS 2087G/A polymo... | BeFree | 22865486 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| However, no study has tested the hypothesis that NOS3 tagSNPs rs3918226, rs3918188, rs743506 and rs7... | DisGeNET | Detail |
| We found a significant interaction between eNOS rs743506 and iNOS 2087G/A polymorphisms in migraine ... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs743506 dbSNP
- Genome
- hg19
- Position
- chr7:150,706,915-150,706,915
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- 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))
- rs743506
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.8529
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 14293
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
Genome browser