chr1:206773062:T>G Detail (hg38) (IL10, IL19)

Information

Genome

Assembly Position
hg19 chr1:206,946,407-206,946,407 View the variant detail on this assembly version.
hg38 chr1:206,773,062-206,773,062

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000659065.2:c.-15+618A>C
ENST00000659642.2:c.-744A>C
Type Transcript Protein
RefSeq
Ensemble ENST00000656872.2:c.-149+2232T>G
ENST00000659997.3:c.-149+1984T>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.340
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 124092 OMIM
HGNC 5962 HGNC
Ensembl ENSG00000136634 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv4568580 TogoVar
COSMIC
MONDO
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 tgv4568580 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2003-12-04 no assertion criteria provided Susceptibility to HIV infection germline Detail
protective 2003-12-04 no assertion criteria provided Graft-versus-host disease, resistance to germline Detail
Benign 2024-01-19 criteria provided, single submitter inflammatory bowel disease germline Detail
other 2022-12-10 no assertion criteria provided cholangiocarcinoma germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Drug usage The polymorphisms IL10 C-592A (rs1800872), C-rs3024505-T, IL1b C-3737T (rs484830... BeFree 24194923 Detail
0.013 colorectal cancer The polymorphisms IL10 C-592A (rs1800872), C-rs3024505-T, IL1b C-3737T (rs484830... BeFree 24194923 Detail
0.006 colorectal carcinoma The polymorphisms IL10 C-592A (rs1800872), C-rs3024505-T, IL1b C-3737T (rs484830... BeFree 24194923 Detail
0.220 hepatitis C Single-nucleotide polymorphisms (SNPs) in the IL-10 gene (-1082 [rs1800896], -81... BeFree 23880623 Detail
0.042 hepatitis C Single-nucleotide polymorphisms (SNPs) in the IL-10 gene (-1082 [rs1800896], -81... BeFree 23880623 Detail
0.015 leprosy Significant associations (P &lt; .05) were observed for 8 polymorphisms (rs18008... BeFree 21917900 Detail
0.003 leprosy Significant associations (P &lt; .05) were observed for 8 polymorphisms (rs18008... BeFree 21917900 Detail
<0.001 leprosy Significant associations (P &lt; .05) were observed for 8 polymorphisms (rs18008... BeFree 21917900 Detail
<0.001 leprosy Significant associations (P &lt; .05) were observed for 8 polymorphisms (rs18008... BeFree 21917900 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 Classical Hodgkin's Lymphoma We investigated whether selected germline SNPs in IL10 (rs1800890, rs1800896, rs... BeFree 24008079 Detail
0.002 Ichthyosis bullosa of Siemens The results suggest that IL-10 rs1800870 confers susceptibility to the risk of I... BeFree 24409078 Detail
0.024 lymphoma Carriage of two copies of the 'low IL10' haplotype rs1800896_A/rs1800871_T/rs180... BeFree 20299965 Detail
0.009 hepatitis B This was a retrospective cohort study.We genotyped seven SNPs in the following g... BeFree 25376093 Detail
0.011 hepatitis B This was a retrospective cohort study.We genotyped seven SNPs in the following g... BeFree 25376093 Detail
0.007 breast carcinoma Effects of interleukin-10 polymorphisms (rs1800896, rs1800871, and rs1800872) on... BeFree 24720854 Detail
0.035 Malignant neoplasm of breast Effects of interleukin-10 polymorphisms (rs1800896, rs1800871, and rs1800872) on... BeFree 24720854 Detail
<0.001 Esophageal Neoplasms We conducted a hospital based case-control study to evaluate the genetic effects... BeFree 23886125 Detail
<0.001 Squamous cell carcinoma of esophagus These findings indicated that functional polymorphism IL10 rs1800872 T&gt;G migh... BeFree 23886125 Detail
0.016 Mucocutaneous Lymph Node Syndrome The IL-10 (-627 A/C) promoter polymorphism may be associated with coronary aneur... BeFree 17413867 Detail
0.003 coronary aneurysm The IL-10 (-627 A/C) promoter polymorphism may be associated with coronary aneur... BeFree 17413867 Detail
<0.001 Mucocutaneous Lymph Node Syndrome The IL-10 (-627 A/C) promoter polymorphism may be associated with coronary aneur... BeFree 17413867 Detail
0.005 Esophageal Neoplasms We conducted a hospital based case-control study to evaluate the genetic effects... BeFree 23886125 Detail
<0.001 coronary aneurysm The IL-10 (-627 A/C) promoter polymorphism may be associated with coronary aneur... BeFree 17413867 Detail
<0.001 esophageal carcinoma We conducted a hospital based case-control study to evaluate the genetic effects... BeFree 23886125 Detail
0.010 Esophageal Neoplasms Interleukin 10 rs1800872 T&gt;G polymorphism was associated with an increased ri... BeFree 23886125 Detail
0.006 colorectal carcinoma We found indications that aspirin interacted with rs6983267 close to MYC (encodi... BeFree 24889212 Detail
0.013 colorectal cancer We found indications that aspirin interacted with rs6983267 close to MYC (encodi... BeFree 24889212 Detail
0.008 Malignant neoplasm of esophagus We conducted a hospital based case-control study to evaluate the genetic effects... BeFree 23886125 Detail
<0.001 Secondary malignant neoplasm of lymph node A promoter variant (rs1800872) in the Interleukin-10 (IL-10) gene was associated... BeFree 21239167 Detail
0.010 Malignant neoplasm of esophagus Interleukin 10 rs1800872 T&gt;G polymorphism was associated with an increased ri... BeFree 23886125 Detail
<0.001 esophageal carcinoma Interleukin 10 rs1800872 T&gt;G polymorphism was associated with an increased ri... BeFree 23886125 Detail
0.011 colorectal cancer We found indications that aspirin interacted with rs6983267 close to MYC (encodi... BeFree 24889212 Detail
0.012 colorectal carcinoma We found indications that aspirin interacted with rs6983267 close to MYC (encodi... BeFree 24889212 Detail
0.001 Cutaneous Melanoma We investigated the role of a haplotype from distal as well as proximal polymorp... BeFree 19458621 Detail
0.004 lymphoma Five hundred patients with aggressive NHL treated with CHOP/CHOEP were analyzed ... BeFree 18559596 Detail
<0.001 Calcific stenosis It is possible to conclude that apoB (XbaI, rs1042031, and rs6725189), ACE (rs43... BeFree 24903972 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_153758.5(IL19):c.-149+1984T>G AND Susceptibility to HIV infection ClinVar Detail
NM_153758.5(IL19):c.-149+1984T>G AND Graft-versus-host disease, resistance to ClinVar Detail
NM_153758.5(IL19):c.-149+1984T>G AND Inflammatory bowel disease ClinVar Detail
NM_153758.5(IL19):c.-149+1984T>G AND Cholangiocarcinoma ClinVar Detail
The polymorphisms IL10 C-592A (rs1800872), C-rs3024505-T, IL1b C-3737T (rs4848306), G-1464C (rs11436... DisGeNET Detail
The polymorphisms IL10 C-592A (rs1800872), C-rs3024505-T, IL1b C-3737T (rs4848306), G-1464C (rs11436... DisGeNET Detail
The polymorphisms IL10 C-592A (rs1800872), C-rs3024505-T, IL1b C-3737T (rs4848306), G-1464C (rs11436... DisGeNET Detail
Single-nucleotide polymorphisms (SNPs) in the IL-10 gene (-1082 [rs1800896], -819 [rs3021097], and -... DisGeNET Detail
Single-nucleotide polymorphisms (SNPs) in the IL-10 gene (-1082 [rs1800896], -819 [rs3021097], and -... DisGeNET Detail
Significant associations (P &lt; .05) were observed for 8 polymorphisms (rs1800871, rs1800872, and r... DisGeNET Detail
Significant associations (P &lt; .05) were observed for 8 polymorphisms (rs1800871, rs1800872, and r... DisGeNET Detail
Significant associations (P &lt; .05) were observed for 8 polymorphisms (rs1800871, rs1800872, and r... DisGeNET Detail
Significant associations (P &lt; .05) were observed for 8 polymorphisms (rs1800871, rs1800872, and r... 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 whether selected germline SNPs in IL10 (rs1800890, rs1800896, rs1800871, rs1800872),... DisGeNET Detail
The results suggest that IL-10 rs1800870 confers susceptibility to the risk of IBS in Caucasian ethn... DisGeNET Detail
Carriage of two copies of the 'low IL10' haplotype rs1800896_A/rs1800871_T/rs1800872_A was associate... DisGeNET Detail
This was a retrospective cohort study.We genotyped seven SNPs in the following genes, interleukin (I... DisGeNET Detail
This was a retrospective cohort study.We genotyped seven SNPs in the following genes, interleukin (I... DisGeNET Detail
Effects of interleukin-10 polymorphisms (rs1800896, rs1800871, and rs1800872) on breast cancer risk:... DisGeNET Detail
Effects of interleukin-10 polymorphisms (rs1800896, rs1800871, and rs1800872) on breast cancer risk:... DisGeNET Detail
We conducted a hospital based case-control study to evaluate the genetic effects of functional singl... DisGeNET Detail
These findings indicated that functional polymorphism IL10 rs1800872 T&gt;G might contribute to ESCC... DisGeNET Detail
The IL-10 (-627 A/C) promoter polymorphism may be associated with coronary aneurysms and low serum a... DisGeNET Detail
The IL-10 (-627 A/C) promoter polymorphism may be associated with coronary aneurysms and low serum a... DisGeNET Detail
The IL-10 (-627 A/C) promoter polymorphism may be associated with coronary aneurysms and low serum a... DisGeNET Detail
We conducted a hospital based case-control study to evaluate the genetic effects of functional singl... DisGeNET Detail
The IL-10 (-627 A/C) promoter polymorphism may be associated with coronary aneurysms and low serum a... DisGeNET Detail
We conducted a hospital based case-control study to evaluate the genetic effects of functional singl... DisGeNET Detail
Interleukin 10 rs1800872 T&gt;G polymorphism was associated with an increased risk of esophageal can... DisGeNET Detail
We found indications that aspirin interacted with rs6983267 close to MYC (encoding a transcription f... DisGeNET Detail
We found indications that aspirin interacted with rs6983267 close to MYC (encoding a transcription f... DisGeNET Detail
We conducted a hospital based case-control study to evaluate the genetic effects of functional singl... DisGeNET Detail
A promoter variant (rs1800872) in the Interleukin-10 (IL-10) gene was associated with an increased l... DisGeNET Detail
Interleukin 10 rs1800872 T&gt;G polymorphism was associated with an increased risk of esophageal can... DisGeNET Detail
Interleukin 10 rs1800872 T&gt;G polymorphism was associated with an increased risk of esophageal can... DisGeNET Detail
We found indications that aspirin interacted with rs6983267 close to MYC (encoding a transcription f... DisGeNET Detail
We found indications that aspirin interacted with rs6983267 close to MYC (encoding a transcription f... DisGeNET Detail
We investigated the role of a haplotype from distal as well as proximal polymorphic sites [-7400InDe... DisGeNET Detail
Five hundred patients with aggressive NHL treated with CHOP/CHOEP were analyzed for IL-10 gene polym... DisGeNET Detail
It is possible to conclude that apoB (XbaI, rs1042031, and rs6725189), ACE (rs4340), IL10 (rs1800896... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1800872 dbSNP
Genome
hg38
Position
chr1:206,773,062-206,773,062
Variant Type
snv
Reference Allele
T
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))
rs1800872
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3397
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5693
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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