chr1:206949365:A>T Detail (hg19) (IL19)

Information

Genome

Assembly Position
hg19 chr1:206,949,365-206,949,365
hg38 chr1:206,776,020-206,776,020 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000659997.3:c.-149+4942A>T
ENST00000656872.2:c.-149+5190A>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
Links
Type Database ID Link
Gene MIM 605687 OMIM
HGNC 5990 HGNC
Ensembl ENSG00000142224 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv4568657 TogoVar
COSMIC
MONDO
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

DescrptionSourceLinks
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&gt;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&gt;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&gt;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
hg19
Position
chr1:206,949,365-206,949,365
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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