chr1:207629676:T>C Detail (hg38) (CR1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:207,803,021-207,803,021 View the variant detail on this assembly version. |
| hg38 | chr1:207,629,676-207,629,676 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000651.4:c.7353-841T>C | |
| NM_000573.3:c.6003-841T>C | ||
| Ensemble | ENST00000367049.9:c.7353-841T>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.403 | |
| 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 |
|---|---|---|---|---|---|
| 0.440 | Alzheimer's disease | There were four significant associations between genotypes and phenotypes of AD ... | BeFree | 24530172 | Detail |
| 0.249 | Alzheimer's disease | There were four significant associations between genotypes and phenotypes of AD ... | BeFree | 24530172 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| There were four significant associations between genotypes and phenotypes of AD patients: CR1 SNP rs... | DisGeNET | Detail |
| There were four significant associations between genotypes and phenotypes of AD patients: CR1 SNP rs... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs11803956 dbSNP
- Genome
- hg38
- Position
- chr1:207,629,676-207,629,676
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- 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))
- rs11803956
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4034
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 6761
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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