chr1:207784968:A>G Detail (hg19) (CR1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:207,784,968-207,784,968 |
hg38 | chr1:207,611,623-207,611,623 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000651.4:c.6296-54A>G | |
NM_000573.3:c.4946-54A>G | ||
Ensemble | ENST00000367053.6:c.4946-54A>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 |
---|---|---|---|---|---|
<0.001 | Impaired cognition | Our prevalent case study comparing prevalent AD cases (n = 428) with participant... | BeFree | 24176626 | Detail |
0.200 | Impaired cognition | Our prevalent case study comparing prevalent AD cases (n = 428) with participant... | BeFree | 24176626 | Detail |
0.262 | Alzheimer's disease | Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated wi... | GWASCAT | 21460840 | Detail |
0.262 | Alzheimer's disease | Genome-wide association study identifies variants at CLU and CR1 associated with... | GWASCAT | 19734903 | Detail |
0.262 | Alzheimer's disease | [Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated w... | GAD | 21460840 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Our prevalent case study comparing prevalent AD cases (n = 428) with participants with no cognitive ... | DisGeNET | Detail |
Our prevalent case study comparing prevalent AD cases (n = 428) with participants with no cognitive ... | DisGeNET | Detail |
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disea... | DisGeNET | Detail |
Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease... | DisGeNET | Detail |
[Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer\'s dis... | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs3818361 dbSNP
- Genome
- hg19
- Position
- chr1:207,784,968-207,784,968
- 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))
- rs3818361
- 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
Genome browser