chr19:6919742:A>G Detail (hg38) (ADGRE1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:6,919,753-6,919,753 View the variant detail on this assembly version. |
| hg38 | chr19:6,919,742-6,919,742 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001256253.1:c.1615A>G | NP_001243182.1:p.Ile539Val |
| NM_001974.4:c.1615A>G | NP_001965.3:p.Ile539Val | |
| NM_001256252.1:c.1459A>G | NP_001243181.1:p.Ile487Val |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.831 |
| ToMMo:0.827 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.784 |
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 |
|---|---|---|---|---|---|
| 0.012 | anemia | Meanwhile, individuals with the EMR1 rs373533 GT, EMR1 rs461645 CT and RTN3 rs54... | BeFree | 24934404 | Detail |
| <0.001 | anemia | Meanwhile, individuals with the EMR1 rs373533 GT, EMR1 rs461645 CT and RTN3 rs54... | BeFree | 24934404 | Detail |
| <0.001 | anemia | Meanwhile, individuals with the EMR1 rs373533 GT, EMR1 rs461645 CT and RTN3 rs54... | BeFree | 24934404 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Meanwhile, individuals with the EMR1 rs373533 GT, EMR1 rs461645 CT and RTN3 rs542998 (additive C) ge... | DisGeNET | Detail |
| Meanwhile, individuals with the EMR1 rs373533 GT, EMR1 rs461645 CT and RTN3 rs542998 (additive C) ge... | DisGeNET | Detail |
| Meanwhile, individuals with the EMR1 rs373533 GT, EMR1 rs461645 CT and RTN3 rs542998 (additive C) ge... | 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
- hg38
- Position
- chr19:6,919,742-6,919,742
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 952
- Mean of sample read depth (HGVD)
- 9.69
- Standard deviation of sample read depth (HGVD)
- 15.94
- Number of reference allele (HGVD)
- 322
- Number of alternative allele (HGVD)
- 1582
- Allele Frequency (HGVD)
- 0.8308823529411765
- Gene Symbol (HGVD)
- EMR1
- 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))
- rs461645
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.8274
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 13865
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
- East Asian Chromosome Counts (ExAC)
- 8628
- East Asian Allele Counts (ExAC)
- 6763
- East Asian Heterozygous Counts (ExAC)
- 1433
- East Asian Homozygous Counts (ExAC)
- 2665
- East Asian Allele Frequency (ExAC)
- 0.7838433008808531
- Chromosome Counts in All Race (ExAC)
- 121188
- Allele Counts in All Race (ExAC)
- 92696
- Heterozygous Counts in All Race (ExAC)
- 21378
- Homozygous Counts in All Race (ExAC)
- 35659
- Allele Frequency in All Race (ExAC)
- 0.7648942139485758
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