chr1:206776020:A>T Detail (hg38) (IL19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:206,949,365-206,949,365 View the variant detail on this assembly version. |
| hg38 | chr1:206,776,020-206,776,020 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000656872.2:c.-149+5190A>T | |
| ENST00000659997.3:c.-149+4942A>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.013 | |
| 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 | Classical Hodgkin's Lymphoma | We investigated whether selected germline SNPs in IL10 (rs1800890, rs1800896, rs... | BeFree | 24008079 | Detail |
| <0.001 | Classical Hodgkin's Lymphoma | We investigated whether selected germline SNPs in IL10 (rs1800890, rs1800896, rs... | BeFree | 24008079 | Detail |
| <0.001 | Classical Hodgkin's Lymphoma | We investigated whether selected germline SNPs in IL10 (rs1800890, rs1800896, rs... | BeFree | 24008079 | Detail |
| 0.001 | Cutaneous Melanoma | We investigated the role of a haplotype from distal as well as proximal polymorp... | BeFree | 19458621 | Detail |
| <0.001 | Waldenstrom Macroglobulinemia | We confirmed previous studies showing a polymorphism in the IL10 promoter (rs180... | BeFree | 19573080 | Detail |
| 0.025 | Hodgkin Disease | In patients above 40 years, the IL-10 rs1800890 T-allele was associated with low... | BeFree | 22475179 | Detail |
| 0.016 | diffuse large B-cell lymphoma | IL10 rs1800890 was associated with risk of diffuse large B-cell lymphoma (OR 1.4... | BeFree | 20087644 | Detail |
| 0.016 | diffuse large B-cell lymphoma | Compared with women who were never occupationally exposed to any organic solvent... | BeFree | 22609637 | Detail |
| 0.002 | measles | Similarly, two previously reported promoter IL10 and IL2 polymorphisms (rs180089... | BeFree | 21875636 | Detail |
| 0.013 | chronic lymphocytic leukemia | We confirmed previous studies showing a polymorphism in the IL10 promoter (rs180... | BeFree | 19573080 | Detail |
| <0.001 | Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse | IL10 rs1800890 was associated with risk of diffuse large B-cell lymphoma (OR 1.4... | BeFree | 20087644 | Detail |
| 0.013 | chronic lymphocytic leukemia | [We confirmed previous studies showing a polymorphism in the IL10 promoter (rs18... | GAD | 19573080 | Detail |
| 0.048 | Lymphoma, Non-Hodgkin | We confirmed previous studies showing a polymorphism in the IL10 promoter (rs180... | BeFree | 19573080 | Detail |
| <0.001 | measles | Similarly, two previously reported promoter IL10 and IL2 polymorphisms (rs180089... | BeFree | 21875636 | Detail |
| 0.004 | lymphoma | Five hundred patients with aggressive NHL treated with CHOP/CHOEP were analyzed ... | BeFree | 18559596 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| We investigated whether selected germline SNPs in IL10 (rs1800890, rs1800896, rs1800871, rs1800872),... | DisGeNET | Detail |
| We investigated whether selected germline SNPs in IL10 (rs1800890, rs1800896, rs1800871, rs1800872),... | DisGeNET | Detail |
| We investigated whether selected germline SNPs in IL10 (rs1800890, rs1800896, rs1800871, rs1800872),... | DisGeNET | Detail |
| We investigated the role of a haplotype from distal as well as proximal polymorphic sites [-7400InDe... | DisGeNET | Detail |
| We confirmed previous studies showing a polymorphism in the IL10 promoter (rs1800890/-3575T>A) to... | DisGeNET | Detail |
| In patients above 40 years, the IL-10 rs1800890 T-allele was associated with lower risk for HL (TT g... | DisGeNET | Detail |
| IL10 rs1800890 was associated with risk of diffuse large B-cell lymphoma (OR 1.41, CI 1.08-1.85 for ... | DisGeNET | Detail |
| Compared with women who were never occupationally exposed to any organic solvents, women who were ex... | DisGeNET | Detail |
| Similarly, two previously reported promoter IL10 and IL2 polymorphisms (rs1800890 and rs2069762) dem... | DisGeNET | Detail |
| We confirmed previous studies showing a polymorphism in the IL10 promoter (rs1800890/-3575T>A) to... | DisGeNET | Detail |
| IL10 rs1800890 was associated with risk of diffuse large B-cell lymphoma (OR 1.41, CI 1.08-1.85 for ... | DisGeNET | Detail |
| [We confirmed previous studies showing a polymorphism in the IL10 promoter (rs1800890/-3575T>A) to b... | DisGeNET | Detail |
| We confirmed previous studies showing a polymorphism in the IL10 promoter (rs1800890/-3575T>A) to... | DisGeNET | Detail |
| Similarly, two previously reported promoter IL10 and IL2 polymorphisms (rs1800890 and rs2069762) dem... | DisGeNET | Detail |
| Five hundred patients with aggressive NHL treated with CHOP/CHOEP were analyzed for IL-10 gene polym... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs1800890 dbSNP
- Genome
- hg38
- Position
- chr1:206,776,020-206,776,020
- Variant Type
- snv
- Reference Allele
- A
- 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))
- rs1800890
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0125
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 210
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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