chr17:48712087:C>T Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:48,712,087-48,712,087 |
| hg38 | chr17:50,634,726-50,634,726 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:0.891 | |
| 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 |
|---|---|---|---|---|---|
| <0.001 | Juvenile arthritis | ABCB1 rs1045642, ABCC3 rs4793665, and SLC19A1 rs1051266 polymorphisms were assoc... | BeFree | 22859359 | Detail |
| <0.001 | juvenile rheumatoid arthritis | ABCB1 rs1045642, ABCC3 rs4793665, and SLC19A1 rs1051266 polymorphisms were assoc... | BeFree | 22859359 | Detail |
| 0.049 | Leukemia, Myelocytic, Acute | We found that the ABCC3 C-211T polymorphism and GSTM1 null genotype have adverse... | BeFree | 18207572 | Detail |
| 0.012 | Leukemia, Myelocytic, Acute | We found that the ABCC3 C-211T polymorphism and GSTM1 null genotype have adverse... | BeFree | 18207572 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| ABCB1 rs1045642, ABCC3 rs4793665, and SLC19A1 rs1051266 polymorphisms were associated with response ... | DisGeNET | Detail |
| ABCB1 rs1045642, ABCC3 rs4793665, and SLC19A1 rs1051266 polymorphisms were associated with response ... | DisGeNET | Detail |
| We found that the ABCC3 C-211T polymorphism and GSTM1 null genotype have adverse prognostic signific... | DisGeNET | Detail |
| We found that the ABCC3 C-211T polymorphism and GSTM1 null genotype have adverse prognostic signific... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs4793665 dbSNP
- Genome
- hg19
- Position
- chr17:48,712,087-48,712,087
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- 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))
- rs4793665
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.8912
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 14937
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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