chr19:1043748:A>G Detail (hg19) (ABCA7)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:1,043,748-1,043,748 |
| hg38 | chr19:1,043,749-1,043,749 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_019112.3:c.955A>G | NP_061985.2:p.Thr319Ala |
| Ensemble | ENST00000263094.11:c.955A>G | ENST00000263094.11:p.Thr319Ala |
Summary
MGeND
| Clinical significance |
Benign
|
| Variant entry | 0 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.068 |
| ToMMo:0.057 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.085 |
Prediction
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Benign
|
2018/05/23 | Aged, 100 and over |
germline
|
MGS000013
(TMGS000027) |
Hiroshi Mori | Osaka City University |
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 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
- chr19:1,043,748-1,043,748
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1205
- Mean of sample read depth (HGVD)
- 70.70
- Standard deviation of sample read depth (HGVD)
- 35.74
- Number of reference allele (HGVD)
- 2244
- Number of alternative allele (HGVD)
- 165
- Allele Frequency (HGVD)
- 0.0684931506849315
- Gene Symbol (HGVD)
- ABCA7
- 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))
- rs3752232
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0569
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 953
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16756
- East Asian Chromosome Counts (ExAC)
- 8562
- East Asian Allele Counts (ExAC)
- 731
- East Asian Heterozygous Counts (ExAC)
- 683
- East Asian Homozygous Counts (ExAC)
- 24
- East Asian Allele Frequency (ExAC)
- 0.08537724830647045
- Chromosome Counts in All Race (ExAC)
- 119898
- Allele Counts in All Race (ExAC)
- 7241
- Heterozygous Counts in All Race (ExAC)
- 6367
- Homozygous Counts in All Race (ExAC)
- 437
- Allele Frequency in All Race (ExAC)
- 0.06039300071727635
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