chr10:96741053:A>C Detail (hg19) (CYP2C9)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:96,741,053-96,741,053 |
| hg38 | chr10:94,981,296-94,981,296 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000771.3:c.1075A>C | NP_000762.2:p.Ile359Leu |
| Ensemble | ENST00000260682.8:c.1075A>C | ENST00000260682.8:p.Ile359Leu |
Summary
MGeND
| Clinical significance |
Benign
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.029 |
| ToMMo:0.025 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.034 |
Prediction
ClinVar
| Clinical Significance | drug response; other |
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Benign
|
Centenarian |
germline
|
MGS000068
(TMGS000140) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
drug response
|
2010-12-30 | no assertion criteria provided |
germline
|
Detail | |
|
drug response
|
2012-06-15 | no assertion criteria provided |
germline
unknown
|
Detail | |
|
drug response
|
2020-09-24 | no assertion criteria provided |
germline
|
Detail | |
|
drug response
|
2012-06-15 | no assertion criteria provided |
germline
|
Detail | |
|
drug response
|
2006-11-20 | no assertion criteria provided |
germline
|
Detail | |
other
|
2015-07-10 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
drug response
|
2019-02-11 | criteria provided, single submitter |
germline
|
Detail | |
|
drug response
|
2019-02-11 | criteria provided, single submitter |
germline
|
Detail | |
|
drug response
|
2019-02-11 | criteria provided, single submitter |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.010 | Cerebrovascular accident | Eight variants in five candidate genes were examined for the risk of stroke, inc... | BeFree | 24368493 | Detail |
| 0.115 | Cerebrovascular accident | Eight variants in five candidate genes were examined for the risk of stroke, inc... | BeFree | 24368493 | Detail |
| 0.091 | Cerebrovascular accident | Eight variants in five candidate genes were examined for the risk of stroke, inc... | BeFree | 24368493 | Detail |
| <0.001 | Acute gastrointestinal hemorrhage | Individuals carrying the gene variants CYP2C8*3 (rs11572080; rs10509681), CYP2C9... | BeFree | 19422321 | Detail |
| <0.001 | Acute gastrointestinal hemorrhage | Individuals carrying the gene variants CYP2C8*3 (rs11572080; rs10509681), CYP2C9... | BeFree | 19422321 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| CYP2C9*3 AND Tolbutamide response | ClinVar | Detail |
| CYP2C9*3 AND Warfarin response | ClinVar | Detail |
| CYP2C9*3 AND Phenytoin response | ClinVar | Detail |
| CYP2C9*3 AND Glipizide response | ClinVar | Detail |
| NM_000771.3(CYP2C9):c.[430C=;1075A>C] AND Warfarin response | ClinVar | Detail |
| CYP2C9*3 AND not provided | ClinVar | Detail |
| CYP2C9*3 AND Flurbiprofen response | ClinVar | Detail |
| CYP2C9*3 AND Lesinurad response | ClinVar | Detail |
| CYP2C9*3 AND Piroxicam response | ClinVar | Detail |
| Eight variants in five candidate genes were examined for the risk of stroke, including the SG13S32 (... | DisGeNET | Detail |
| Eight variants in five candidate genes were examined for the risk of stroke, including the SG13S32 (... | DisGeNET | Detail |
| Eight variants in five candidate genes were examined for the risk of stroke, including the SG13S32 (... | DisGeNET | Detail |
| Individuals carrying the gene variants CYP2C8*3 (rs11572080; rs10509681), CYP2C9*2 (rs1799853) or CY... | DisGeNET | Detail |
| Individuals carrying the gene variants CYP2C8*3 (rs11572080; rs10509681), CYP2C9*2 (rs1799853) or CY... | 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
- rs1057910 dbSNP
- Genome
- hg19
- Position
- chr10:96,741,053-96,741,053
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 175.59
- Standard deviation of sample read depth (HGVD)
- 75.55
- Number of reference allele (HGVD)
- 2349
- Number of alternative allele (HGVD)
- 71
- Allele Frequency (HGVD)
- 0.02933884297520661
- Gene Symbol (HGVD)
- CYP2C9
- 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))
- rs1057910
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0247
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 414
- 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)
- 292
- East Asian Heterozygous Counts (ExAC)
- 280
- East Asian Homozygous Counts (ExAC)
- 6
- East Asian Allele Frequency (ExAC)
- 0.033788474890071744
- Chromosome Counts in All Race (ExAC)
- 121260
- Allele Counts in All Race (ExAC)
- 7725
- Heterozygous Counts in All Race (ExAC)
- 7053
- Homozygous Counts in All Race (ExAC)
- 336
- Allele Frequency in All Race (ExAC)
- 0.06370608609599208
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