chr1:206773552:T>C Detail (hg38) (IL10, IL19)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr1:206,946,897-206,946,897 View the variant detail on this assembly version.
hg38	chr1:206,773,552-206,773,552

HGVS

IL10
IL19

Type	Transcript	Protein
RefSeq
Ensemble	ENST00000659065.2:c.-15+128A>G
	ENST00000659642.2:c.-1118-116A>G
	ENST00000664374.2:c.-15+778A>G

Type	Transcript	Protein
RefSeq
Ensemble	ENST00000656872.2:c.-149+2722T>C
	ENST00000659997.3:c.-149+2474T>C

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:0.046
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain risk allele
Review star
Show details

Links

IL10
IL19

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	tgv4568596	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	tgv4568596	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain risk allele	2022-06-10	no assertion criteria provided	Leprosy, susceptibility to, 1	inherited	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.001	colorectal cancer	A case-control study of 401 cases and 300 sex- and age-matched controls was perf...	BeFree	24446182	Detail
<0.001	ovarian carcinoma	A case-control study of 401 cases and 300 sex- and age-matched controls was perf...	BeFree	24446182	Detail
0.006	colorectal carcinoma	A case-control study of 401 cases and 300 sex- and age-matched controls was perf...	BeFree	24446182	Detail
0.004	ovarian carcinoma	A case-control study of 401 cases and 300 sex- and age-matched controls was perf...	BeFree	24446182	Detail
0.010	Malignant neoplasm of ovary	A case-control study of 401 cases and 300 sex- and age-matched controls was perf...	BeFree	24446182	Detail
<0.001	Malignant neoplasm of ovary	A case-control study of 401 cases and 300 sex- and age-matched controls was perf...	BeFree	24446182	Detail
<0.001	ovarian carcinoma	A case-control study of 401 cases and 300 sex- and age-matched controls was perf...	BeFree	24446182	Detail
0.002	colorectal carcinoma	A case-control study of 401 cases and 300 sex- and age-matched controls was perf...	BeFree	24446182	Detail
0.004	colorectal carcinoma	A case-control study of 401 cases and 300 sex- and age-matched controls was perf...	BeFree	24446182	Detail
0.017	colorectal cancer	A case-control study of 401 cases and 300 sex- and age-matched controls was perf...	BeFree	24446182	Detail
0.003	colorectal carcinoma	A case-control study of 401 cases and 300 sex- and age-matched controls was perf...	BeFree	24446182	Detail
0.003	Malignant neoplasm of ovary	A case-control study of 401 cases and 300 sex- and age-matched controls was perf...	BeFree	24446182	Detail
0.005	colorectal cancer	A case-control study of 401 cases and 300 sex- and age-matched controls was perf...	BeFree	24446182	Detail
0.001	Malignant neoplasm of ovary	A case-control study of 401 cases and 300 sex- and age-matched controls was perf...	BeFree	24446182	Detail
0.007	stomach carcinoma	A case-control study of 401 cases and 300 sex- and age-matched controls was perf...	BeFree	24446182	Detail
0.001	ovarian carcinoma	A case-control study of 401 cases and 300 sex- and age-matched controls was perf...	BeFree	24446182	Detail
0.006	colorectal carcinoma	A case-control study of 401 cases and 300 sex- and age-matched controls was perf...	BeFree	24446182	Detail
0.008	colorectal cancer	A case-control study of 401 cases and 300 sex- and age-matched controls was perf...	BeFree	24446182	Detail
0.013	colorectal cancer	A case-control study of 401 cases and 300 sex- and age-matched controls was perf...	BeFree	24446182	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
0.006	Cervical Intraepithelial Neoplasia	When compared to controls, the CIN patients showed increased frequencies of CC (...	BeFree	23363891	Detail
0.005	gastric adenocarcinoma	To investigate the potential association between five cytokine promoter polymorp...	BeFree	22891178	Detail
0.001	gastric adenocarcinoma	To investigate the potential association between five cytokine promoter polymorp...	BeFree	22891178	Detail
<0.001	gastric adenocarcinoma	To investigate the potential association between five cytokine promoter polymorp...	BeFree	22891178	Detail
0.002	gastric adenocarcinoma	To investigate the potential association between five cytokine promoter polymorp...	BeFree	22891178	Detail
0.003	gestational diabetes	Our study aimed to assess in vitro production of IL-10, IL-6, TNF-A, and adipone...	BeFree	22070425	Detail
0.026	gestational diabetes	Our study aimed to assess in vitro production of IL-10, IL-6, TNF-A, and adipone...	BeFree	22070425	Detail
<0.001	gestational diabetes	Our study aimed to assess in vitro production of IL-10, IL-6, TNF-A, and adipone...	BeFree	22070425	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
0.213	rheumatoid arthritis	No associations were found for rs1800795 (IL-6), rs1800896 (IL-10) and rs7528684...	BeFree	25566937	Detail
0.035	rheumatoid arthritis	No associations were found for rs1800795 (IL-6), rs1800896 (IL-10) and rs7528684...	BeFree	25566937	Detail
0.203	rheumatoid arthritis	No associations were found for rs1800795 (IL-6), rs1800896 (IL-10) and rs7528684...	BeFree	25566937	Detail
0.024	lymphoma	Carriage of two copies of the 'low IL10' haplotype rs1800896_A/rs1800871_T/rs180...	BeFree	20299965	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	Cutaneous Melanoma	We investigated the role of a haplotype from distal as well as proximal polymorp...	BeFree	19458621	Detail
0.004	Mycobacterium Infections	[Dominance of environmental factors over genetic ones and insufficient sample si...	GAD	20399512	Detail
0.138	Dermatitis, Atopic	Association between the IL10 -1082A>G (rs1800896) single-nucleotide polymorph...	BeFree	23857017	Detail
0.110	periodontitis	[ It is suggested that the -1087 IL10 polymorphism in Caucasian subjects of a no...	GAD	12631183	Detail
0.010	Eczema	Association between the IL10 -1082A>G (rs1800896) single-nucleotide polymorph...	BeFree	23857017	Detail
0.003	bronchiolitis	IL10 rs1800896, IFNG rs2430561, and IL18 rs1872387 polymorphims and their associ...	BeFree	24167151	Detail
0.003	Sepsis	Polymorphisms in TLR2 (rs3804099), TLR5 (rs5744105), IL10 (rs1800896), and PLA2G...	BeFree	20463618	Detail
0.001	Septicemia	Polymorphisms in TLR2 (rs3804099), TLR5 (rs5744105), IL10 (rs1800896), and PLA2G...	BeFree	20463618	Detail
0.035	Malignant neoplasm of prostate	[Using Multivariate Adaptive Regression Splines modeling for exploratory SNP-SNP...	GAD	19474090	Detail
0.001	bronchiolitis	Polymorphism of the rs1800896 IL10 promoter gene protects children from post-bro...	BeFree	24167151	Detail
0.154	asthma	Polymorphism of the rs1800896 IL10 promoter gene protects children from post-bro...	BeFree	24167151	Detail
0.007	Glioma	In the single-locus analysis of the 23 examined SNPs, 1 pro-inflammatory and 2 a...	BeFree	20406895	Detail
0.016	B-Cell Lymphomas	IL10 rs1800896 was associated with B cell lymphoma [per-allele odds ratio (OR) =...	BeFree	23640160	Detail
0.016	diffuse large B-cell lymphoma	IL10 rs1800896 was associated with B cell lymphoma [per-allele odds ratio (OR) =...	BeFree	23640160	Detail
0.005	Septicemia	Polymorphisms in TLR2 (rs3804099), TLR5 (rs5744105), IL10 (rs1800896), and PLA2G...	BeFree	20463618	Detail
0.134	Glioma	In the single-locus analysis of the 23 examined SNPs, 1 pro-inflammatory and 2 a...	BeFree	20406895	Detail
0.003	Glioma	In the single-locus analysis of the 23 examined SNPs, 1 pro-inflammatory and 2 a...	BeFree	20406895	Detail
0.004	Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site	Eight single nucleotide polymorphisms were associated with spontaneous productio...	BeFree	24628819	Detail
0.017	coronary artery disease	In the present study, the IL-10 -1082A/G (rs1800896) polymorphism was detected i...	BeFree	22825546	Detail
0.110	periodontitis	[Dominance of environmental factors over genetic ones and insufficient sample si...	GAD	20399512	Detail
0.100	Sepsis	Polymorphisms in TLR2 (rs3804099), TLR5 (rs5744105), IL10 (rs1800896), and PLA2G...	BeFree	20463618	Detail
0.005	lymphadenitis	[Dominance of environmental factors over genetic ones and insufficient sample si...	GAD	20399512	Detail
0.001	Lower respiratory tract infection	In conclusion, IL10 rs1800896 SNP was significantly associated with preschool as...	BeFree	24167151	Detail
0.004	T-Cell Lymphoma	IL10 rs1800896 was associated with B cell lymphoma [per-allele odds ratio (OR) =...	BeFree	23640160	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

Descrption	Source	Links
NM_153758.5(IL19):c.-149+2474T>C AND Leprosy, susceptibility to, 1	ClinVar	Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex...	DisGeNET	Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex...	DisGeNET	Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex...	DisGeNET	Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex...	DisGeNET	Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex...	DisGeNET	Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex...	DisGeNET	Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex...	DisGeNET	Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex...	DisGeNET	Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex...	DisGeNET	Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex...	DisGeNET	Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex...	DisGeNET	Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex...	DisGeNET	Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex...	DisGeNET	Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex...	DisGeNET	Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex...	DisGeNET	Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex...	DisGeNET	Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex...	DisGeNET	Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex...	DisGeNET	Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex...	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
When compared to controls, the CIN patients showed increased frequencies of CC (rs1554286) and AG+GG...	DisGeNET	Detail
To investigate the potential association between five cytokine promoter polymorphisms (interleukin [...	DisGeNET	Detail
To investigate the potential association between five cytokine promoter polymorphisms (interleukin [...	DisGeNET	Detail
To investigate the potential association between five cytokine promoter polymorphisms (interleukin [...	DisGeNET	Detail
To investigate the potential association between five cytokine promoter polymorphisms (interleukin [...	DisGeNET	Detail
Our study aimed to assess in vitro production of IL-10, IL-6, TNF-A, and adiponectin serum levels in...	DisGeNET	Detail
Our study aimed to assess in vitro production of IL-10, IL-6, TNF-A, and adiponectin serum levels in...	DisGeNET	Detail
Our study aimed to assess in vitro production of IL-10, IL-6, TNF-A, and adiponectin serum levels in...	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
No associations were found for rs1800795 (IL-6), rs1800896 (IL-10) and rs7528684 (FCRL3) in the tota...	DisGeNET	Detail
No associations were found for rs1800795 (IL-6), rs1800896 (IL-10) and rs7528684 (FCRL3) in the tota...	DisGeNET	Detail
No associations were found for rs1800795 (IL-6), rs1800896 (IL-10) and rs7528684 (FCRL3) in the tota...	DisGeNET	Detail
Carriage of two copies of the 'low IL10' haplotype rs1800896_A/rs1800871_T/rs1800872_A was associate...	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 investigated the role of a haplotype from distal as well as proximal polymorphic sites [-7400InDe...	DisGeNET	Detail
[Dominance of environmental factors over genetic ones and insufficient sample size might explain the...	DisGeNET	Detail
Association between the IL10 -1082A>G (rs1800896) single-nucleotide polymorphism and atopic derma...	DisGeNET	Detail
[ It is suggested that the -1087 IL10 polymorphism in Caucasian subjects of a north European origin ...	DisGeNET	Detail
Association between the IL10 -1082A>G (rs1800896) single-nucleotide polymorphism and atopic derma...	DisGeNET	Detail
IL10 rs1800896, IFNG rs2430561, and IL18 rs1872387 polymorphims and their associations with asthma a...	DisGeNET	Detail
Polymorphisms in TLR2 (rs3804099), TLR5 (rs5744105), IL10 (rs1800896), and PLA2G2A (rs1891320) genes...	DisGeNET	Detail
Polymorphisms in TLR2 (rs3804099), TLR5 (rs5744105), IL10 (rs1800896), and PLA2G2A (rs1891320) genes...	DisGeNET	Detail
[Using Multivariate Adaptive Regression Splines modeling for exploratory SNP-SNP interactions, our r...	DisGeNET	Detail
Polymorphism of the rs1800896 IL10 promoter gene protects children from post-bronchiolitis asthma.	DisGeNET	Detail
Polymorphism of the rs1800896 IL10 promoter gene protects children from post-bronchiolitis asthma.	DisGeNET	Detail
In the single-locus analysis of the 23 examined SNPs, 1 pro-inflammatory and 2 anti-inflammatory gen...	DisGeNET	Detail
IL10 rs1800896 was associated with B cell lymphoma [per-allele odds ratio (OR) = 1.25, 95 % confiden...	DisGeNET	Detail
IL10 rs1800896 was associated with B cell lymphoma [per-allele odds ratio (OR) = 1.25, 95 % confiden...	DisGeNET	Detail
Polymorphisms in TLR2 (rs3804099), TLR5 (rs5744105), IL10 (rs1800896), and PLA2G2A (rs1891320) genes...	DisGeNET	Detail
In the single-locus analysis of the 23 examined SNPs, 1 pro-inflammatory and 2 anti-inflammatory gen...	DisGeNET	Detail
In the single-locus analysis of the 23 examined SNPs, 1 pro-inflammatory and 2 anti-inflammatory gen...	DisGeNET	Detail
Eight single nucleotide polymorphisms were associated with spontaneous production of IL-10 in cultur...	DisGeNET	Detail
In the present study, the IL-10 -1082A/G (rs1800896) polymorphism was detected in 174 coronary arter...	DisGeNET	Detail
[Dominance of environmental factors over genetic ones and insufficient sample size might explain the...	DisGeNET	Detail
Polymorphisms in TLR2 (rs3804099), TLR5 (rs5744105), IL10 (rs1800896), and PLA2G2A (rs1891320) genes...	DisGeNET	Detail
[Dominance of environmental factors over genetic ones and insufficient sample size might explain the...	DisGeNET	Detail
In conclusion, IL10 rs1800896 SNP was significantly associated with preschool asthma after severe lo...	DisGeNET	Detail
IL10 rs1800896 was associated with B cell lymphoma [per-allele odds ratio (OR) = 1.25, 95 % confiden...	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

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
Genome: hg38
Position: chr1:206,773,552-206,773,552
Variant Type: snv
Reference Allele: T
Alternative Allele: C
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)): rs1800896
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.0458
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 768
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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