chr7:151001791:A>G Detail (hg38) (NOS3, LOC126860224)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:150,698,879-150,698,879 View the variant detail on this assembly version. |
| hg38 | chr7:151,001,791-151,001,791 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000603.4:c.1503-30A>G | |
| NM_001160109.1:c.1503-30A>G | ||
| NM_001160110.1:c.1503-30A>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.632 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.613 |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2021-05-13 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.211 | essential hypertension | Polymorphisms of rs1799983 (G>T) and rs1800780 (A>G) of the eNOS gene asso... | BeFree | 23613274 | Detail |
| <0.001 | essential hypertension | These findings suggest that polymorphism of rs1800780 (A→G) in the eNOS gene may... | BeFree | 24292621 | Detail |
| 0.211 | essential hypertension | Genetic association of rs1800780 (A→G) polymorphism of the eNOS gene with suscep... | BeFree | 24292621 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000603.5(NOS3):c.1503-30A>G AND not provided | ClinVar | Detail |
| Polymorphisms of rs1799983 (G>T) and rs1800780 (A>G) of the eNOS gene associated with suscepti... | DisGeNET | Detail |
| These findings suggest that polymorphism of rs1800780 (A→G) in the eNOS gene may be one of the most ... | DisGeNET | Detail |
| Genetic association of rs1800780 (A→G) polymorphism of the eNOS gene with susceptibility to essentia... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs1800780 dbSNP
- Genome
- hg38
- Position
- chr7:151,001,791-151,001,791
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- 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))
- rs1800780
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.6325
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 10599
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
- East Asian Chromosome Counts (ExAC)
- 8598
- East Asian Allele Counts (ExAC)
- 5268
- East Asian Heterozygous Counts (ExAC)
- 2034
- East Asian Homozygous Counts (ExAC)
- 1617
- East Asian Allele Frequency (ExAC)
- 0.6127006280530356
- Chromosome Counts in All Race (ExAC)
- 120606
- Allele Counts in All Race (ExAC)
- 69008
- Heterozygous Counts in All Race (ExAC)
- 29134
- Homozygous Counts in All Race (ExAC)
- 19937
- Allele Frequency in All Race (ExAC)
- 0.5721771719483276
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