chr7:50628747:TCTC> Detail (hg19) (DDC)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:50,628,747-50,628,750 |
| hg38 | chr7:50,561,050-50,561,053 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000790.3:c.-65_-68delGAGA | |
| NM_001242888.1:c.-65_-68delGAGA | ||
| NM_001082971.1:c.-29+4235_-29+4232delGAGA |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.503 | |
| 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 |
|---|---|---|---|---|---|
| 0.178 | attention deficit hyperactivity disorder | We have assessed variants in four genes, DDC (rs3837091 and rs3735273), DRD2 (rs... | BeFree | 24163823 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| We have assessed variants in four genes, DDC (rs3837091 and rs3735273), DRD2 (rs1800496, rs1801028, ... | 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
- -
- dbSNP
- rs3837091 dbSNP
- Genome
- hg19
- Position
- chr7:50,628,747-50,628,750
- Variant Type
- snv
- Reference Allele
- TCTC
- Alternative Allele
- -
- 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))
- rs3837091
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.5028
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 8426
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
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