chr20:32665748:A>G Detail (hg19) (RALY)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr20:32,665,748-32,665,748 |
| hg38 | chr20:34,077,942-34,077,942 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_016732.2:c.877-563A>G | |
| NM_007367.3:c.829-563A>G | ||
| Ensemble | ENST00000246194.8:c.877-563A>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:1.000 | |
| 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 | Spot pigmented | We identified genome-wide significant association with pigmented spots at three ... | BeFree | 25705849 | Detail |
| <0.001 | Spot pigmented | We identified genome-wide significant association with pigmented spots at three ... | BeFree | 25705849 | Detail |
| <0.001 | Spot pigmented | We identified genome-wide significant association with pigmented spots at three ... | BeFree | 25705849 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| We identified genome-wide significant association with pigmented spots at three genetic loci: IRF4 (... | DisGeNET | Detail |
| We identified genome-wide significant association with pigmented spots at three genetic loci: IRF4 (... | DisGeNET | Detail |
| We identified genome-wide significant association with pigmented spots at three genetic loci: IRF4 (... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs6059655 dbSNP
- Genome
- hg19
- Position
- chr20:32,665,748-32,665,748
- 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))
- rs6059655
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.9999
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16759
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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