chr10:124214355:C>A Detail (hg19) (ARMS2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:124,214,355-124,214,355 |
| hg38 | chr10:122,454,839-122,454,839 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001099667.1:c.112C>A | NP_001093137.1:p.Arg38= |
| Ensemble | ENST00000528446.1:c.112C>A | ENST00000528446.1:p.Arg38= |
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 |
|---|---|---|---|---|---|
| 0.404 | age related macular degeneration | PheWAS results indicate that a nonsense variant in ARMS2 (rs2736911) is associat... | BeFree | 25074467 | Detail |
| 0.404 | age related macular degeneration | R38X variant of ARMS2 seems to be protective from wet ARMD. | BeFree | 22293892 | Detail |
| 0.128 | Exudative age-related macular degeneration | A69S and R38X ARMS2 and Y402H CFH gene polymorphisms as risk factors for neovasc... | BeFree | 22293892 | Detail |
| 0.131 | Exudative age-related macular degeneration | A69S and R38X ARMS2 and Y402H CFH gene polymorphisms as risk factors for neovasc... | BeFree | 22293892 | Detail |
| 0.480 | age related macular degeneration | Our purpose was to assess influence of gene polymorphisms A69S (rs10490924) and ... | BeFree | 22293892 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| PheWAS results indicate that a nonsense variant in ARMS2 (rs2736911) is associated with age-related ... | DisGeNET | Detail |
| R38X variant of ARMS2 seems to be protective from wet ARMD. | DisGeNET | Detail |
| A69S and R38X ARMS2 and Y402H CFH gene polymorphisms as risk factors for neovascular age-related mac... | DisGeNET | Detail |
| A69S and R38X ARMS2 and Y402H CFH gene polymorphisms as risk factors for neovascular age-related mac... | DisGeNET | Detail |
| Our purpose was to assess influence of gene polymorphisms A69S (rs10490924) and R38X (rs2736911) ARM... | 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
- chr10:124,214,355-124,214,355
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8612
- 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)
- 120752
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.281436332317477E-6
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