chr1:207612944:A>G Detail (hg38) (CR1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:207,786,289-207,786,289 View the variant detail on this assembly version. |
| hg38 | chr1:207,612,944-207,612,944 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000651.4:c.6575+903A>G | |
| NM_000573.3:c.5225+903A>G | ||
| Ensemble | ENST00000367049.9:c.6575+903A>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.606 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
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 |
|---|---|---|---|---|---|
| 0.262 | Alzheimer's disease | [Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late... | GAD | 21460841 | Detail |
| 0.262 | Alzheimer's disease | Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-... | GWASCAT | 21460841 | Detail |
| 0.287 | Alzheimer's disease | In this case-control study, we aimed to investigate whether single nucleotide po... | BeFree | 25359311 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| [Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer\'s ... | DisGeNET | Detail |
| Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's di... | DisGeNET | Detail |
| In this case-control study, we aimed to investigate whether single nucleotide polymorphisms in MTHFR... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs6701713 dbSNP
- Genome
- hg38
- Position
- chr1:207,612,944-207,612,944
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- 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))
- rs6701713
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.6063
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 10161
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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