chr9:122377927:G>A Detail (hg38) (PTGS1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:125,140,206-125,140,206 View the variant detail on this assembly version. |
| hg38 | chr9:122,377,927-122,377,927 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000962.3:c.123G>A | NP_000953.2:p.Gln41= |
| NM_001271367.1:c.123G>A | NP_001258296.1:p.Gln41= | |
| NM_080591.2:c.123G>A | NP_542158.1:p.Gln41= |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.072 |
| ToMMo:0.072 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.063 |
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
|
2020-12-08 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.003 | Ischemic Cerebrovascular Accident | To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid bios... | BeFree | 21816595 | Detail |
| 0.002 | Ischemic Cerebrovascular Accident | To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid bios... | BeFree | 21816595 | Detail |
| 0.003 | Ischemic stroke | To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid bios... | BeFree | 21816595 | Detail |
| 0.001 | Ischemic Cerebrovascular Accident | To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid bios... | BeFree | 21816595 | Detail |
| 0.002 | Ischemic stroke | To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid bios... | BeFree | 21816595 | Detail |
| 0.001 | Ischemic stroke | To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid bios... | BeFree | 21816595 | Detail |
| 0.004 | Ischemic Cerebrovascular Accident | To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid bios... | BeFree | 21816595 | Detail |
| 0.009 | Ischemic stroke | To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid bios... | BeFree | 21816595 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000962.4(PTGS1):c.123G>A (p.Gln41=) AND not provided | ClinVar | Detail |
| To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid biosynthesis genes are a... | DisGeNET | Detail |
| To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid biosynthesis genes are a... | DisGeNET | Detail |
| To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid biosynthesis genes are a... | DisGeNET | Detail |
| To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid biosynthesis genes are a... | DisGeNET | Detail |
| To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid biosynthesis genes are a... | DisGeNET | Detail |
| To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid biosynthesis genes are a... | DisGeNET | Detail |
| To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid biosynthesis genes are a... | DisGeNET | Detail |
| To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid biosynthesis genes are a... | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs3842788 dbSNP
- Genome
- hg38
- Position
- chr9:122,377,927-122,377,927
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 124.13
- Standard deviation of sample read depth (HGVD)
- 61.54
- Number of reference allele (HGVD)
- 2245
- Number of alternative allele (HGVD)
- 175
- Allele Frequency (HGVD)
- 0.07231404958677685
- Gene Symbol (HGVD)
- PTGS1
- 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))
- rs3842788
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0715
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1199
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8642
- East Asian Allele Counts (ExAC)
- 544
- East Asian Heterozygous Counts (ExAC)
- 510
- East Asian Homozygous Counts (ExAC)
- 17
- East Asian Allele Frequency (ExAC)
- 0.06294839157602407
- Chromosome Counts in All Race (ExAC)
- 121346
- Allele Counts in All Race (ExAC)
- 6058
- Heterozygous Counts in All Race (ExAC)
- 5292
- Homozygous Counts in All Race (ExAC)
- 383
- Allele Frequency in All Race (ExAC)
- 0.04992335964926738
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