chr1:159683438:C>A Detail (hg19) (CRP)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:159,683,438-159,683,438 |
| hg38 | chr1:159,713,648-159,713,648 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000567.2:c.552G>T | NP_000558.2:p.Leu184= |
| Ensemble | ENST00000255030.9:c.552G>T | ENST00000255030.9:p.Leu184= |
| ENST00000368112.5:c.198-45G>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 |
|---|---|---|---|---|---|
| 0.006 | colorectal cancer | Genotype CC of rs1800947 in the C-reactive protein gene may increase susceptibil... | BeFree | 24761881 | Detail |
| 0.003 | colorectal carcinoma | Genotype CC of rs1800947 in the C-reactive protein gene may increase susceptibil... | BeFree | 24761881 | Detail |
| 0.012 | Ischemic stroke | [Association study between C-reactive protein genes and ischemic stroke in Japan... | GAD | 16733231 | Detail |
| <0.001 | Cerebral Small Vessel Diseases | In a case-control design, 1,669 patients with ischemic stroke due to large-arter... | BeFree | 20733302 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Genotype CC of rs1800947 in the C-reactive protein gene may increase susceptibility to colorectal ca... | DisGeNET | Detail |
| Genotype CC of rs1800947 in the C-reactive protein gene may increase susceptibility to colorectal ca... | DisGeNET | Detail |
| [Association study between C-reactive protein genes and ischemic stroke in Japanese subjects.] | DisGeNET | Detail |
| In a case-control design, 1,669 patients with ischemic stroke due to large-artery atherosclerosis, c... | 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
- -
- Genome
- hg19
- Position
- chr1:159,683,438-159,683,438
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8648
- 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)
- 121334
- Allele Counts in All Race (ExAC)
- 2
- Heterozygous Counts in All Race (ExAC)
- 2
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.6483425915242224E-5
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