chr7:94043239:C>A Detail (hg19) (COL1A2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:94,043,239-94,043,239 |
| hg38 | chr7:94,413,927-94,413,927 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000089.3:c.1645C>A | NP_000080.2:p.Pro549Thr |
| Ensemble | ENST00000297268.11:c.1645C>A | ENST00000297268.11:p.Pro549Thr |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.068 |
| 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 |
|---|---|---|---|---|---|
| 0.014 | intracranial aneurysm | A coding polymorphism (rs42524) in COL1A2 has previously been associated with in... | BeFree | 19426706 | Detail |
| 0.014 | intracranial aneurysm | In this study, we investigated the association of rs42524 in the alpha-2 type I ... | BeFree | 22815632 | Detail |
| 0.014 | intracranial aneurysm | [Polymorphism rs42524 of COL1A2 and sporadic intracranial aneurysms in the Chine... | GAD | 19035720 | Detail |
| 0.014 | intracranial aneurysm | Polymorphism rs42524 of COL1A2 and sporadic intracranial aneurysms in the Chines... | BeFree | 19035720 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| A coding polymorphism (rs42524) in COL1A2 has previously been associated with intracranial aneurysms... | DisGeNET | Detail |
| In this study, we investigated the association of rs42524 in the alpha-2 type I collagen (COL1A2) ge... | DisGeNET | Detail |
| [Polymorphism rs42524 of COL1A2 and sporadic intracranial aneurysms in the Chinese population.] | DisGeNET | Detail |
| Polymorphism rs42524 of COL1A2 and sporadic intracranial aneurysms in the Chinese population. | 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
- chr7:94,043,239-94,043,239
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1192
- Mean of sample read depth (HGVD)
- 73.64
- Standard deviation of sample read depth (HGVD)
- 31.52
- Number of reference allele (HGVD)
- 68
- Number of alternative allele (HGVD)
- 5
- Allele Frequency (HGVD)
- 0.0684931506849315
- Gene Symbol (HGVD)
- COL1A2
- East Asian Chromosome Counts (ExAC)
- 8654
- 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)
- 0
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.6483425915242224E-5
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