chr19:11501240:A>G Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:11,501,240-11,501,240 |
| hg38 | chr19:11,390,564-11,390,564 View the variant detail on this assembly version. |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.727 | |
| 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 | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.005 | polycythemia vera | Three additional JAK2 SNPs (rs10758669, rs3808850, and rs10974947) and a single ... | BeFree | 18006699 | Detail |
| <0.001 | Primary myelofibrosis | Three additional JAK2 SNPs (rs10758669, rs3808850, and rs10974947) and a single ... | BeFree | 18006699 | Detail |
| 0.003 | Thrombocythemia, Essential | Three additional JAK2 SNPs (rs10758669, rs3808850, and rs10974947) and a single ... | BeFree | 18006699 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Three additional JAK2 SNPs (rs10758669, rs3808850, and rs10974947) and a single EPOR SNP (rs318699) ... | DisGeNET | Detail |
| Three additional JAK2 SNPs (rs10758669, rs3808850, and rs10974947) and a single EPOR SNP (rs318699) ... | DisGeNET | Detail |
| Three additional JAK2 SNPs (rs10758669, rs3808850, and rs10974947) and a single EPOR SNP (rs318699) ... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs318699 dbSNP
- Genome
- hg19
- Position
- chr19:11,501,240-11,501,240
- 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))
- rs318699
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.727
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 12184
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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