chr18:74980809:G>A Detail (hg19) (GALR1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr18:74,980,809-74,980,809 |
| hg38 | chr18:77,268,853-77,268,853 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001480.3:c.1001G>A | NP_001471.2:p.Ser334Asn |
| Ensemble | ENST00000299727.5:c.1001G>A | ENST00000299727.5:p.Ser334Asn |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:1.000 |
| ToMMo:1.000 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:1.000 |
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 | heroin dependence | Fourteen SNPs showed nominally significant association with heroin addiction (p ... | BeFree | 24766650 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Fourteen SNPs showed nominally significant association with heroin addiction (p < 0.05), includin... | 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
- chr18:74,980,809-74,980,809
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 116.84
- Standard deviation of sample read depth (HGVD)
- 55.93
- Number of reference allele (HGVD)
- 0
- Number of alternative allele (HGVD)
- 2414
- Allele Frequency (HGVD)
- 1.0
- Gene Symbol (HGVD)
- GALR1
- 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))
- rs5376
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 8654
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 4327
- East Asian Allele Frequency (ExAC)
- 1.0
- Chromosome Counts in All Race (ExAC)
- 121052
- Allele Counts in All Race (ExAC)
- 117795
- Heterozygous Counts in All Race (ExAC)
- 2307
- Homozygous Counts in All Race (ExAC)
- 57744
- Allele Frequency in All Race (ExAC)
- 0.9730942074480389
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