chr1:206946634:A>G Detail (hg19) (IL10, IL19)

Information

Genome

Assembly Position
hg19 chr1:206,946,634-206,946,634
hg38 chr1:206,773,289-206,773,289 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000664374.2:c.-14-957T>C
ENST00000659065.2:c.-15+391T>C
Type Transcript Protein
RefSeq
Ensemble ENST00000659997.3:c.-149+2211A>G
ENST00000656872.2:c.-149+2459A>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 tgv4568587 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 tgv4568587 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-01-19 criteria provided, single submitter inflammatory bowel disease germline Detail
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
0.006 colorectal carcinoma We found that rs1143634 in the interleukin-1β (IL1B) gene and rs1800871 in the i... BeFree 24557062 Detail
0.013 colorectal cancer We found that rs1143634 in the interleukin-1β (IL1B) gene and rs1800871 in the i... BeFree 24557062 Detail
<0.001 aortic valve stenosis Finally, rs1544410 polymorphism within the VDR gene, E2 and E4 alleles within th... BeFree 24903972 Detail
0.003 aortic valve stenosis Finally, rs1544410 polymorphism within the VDR gene, E2 and E4 alleles within th... BeFree 24903972 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
0.025 Malignant neoplasm of lung Bayesian correction for multiple comparisons suggests that chance is unlikely to... BeFree 20112337 Detail
<0.001 Oropharyngeal disorders Bayesian correction for multiple comparisons suggests that chance is unlikely to... BeFree 20112337 Detail
0.042 Malignant neoplasm of lung Bayesian correction for multiple comparisons suggests that chance is unlikely to... BeFree 20112337 Detail
<0.001 breast carcinoma To explore the association of NFKB1 c.-798_-795delATTG (rs28362491), NFKBIA c.-9... BeFree 25559835 Detail
0.003 Malignant neoplasm of breast To explore the association of NFKB1 c.-798_-795delATTG (rs28362491), NFKBIA c.-9... BeFree 25559835 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
0.024 lymphoma Carriage of two copies of the 'low IL10' haplotype rs1800896_A/rs1800871_T/rs180... BeFree 20299965 Detail
<0.001 Malignant neoplasm of oropharynx After adjusting for age, education, ethnicity, gender, and tobacco smoking, IL10... BeFree 20112337 Detail
0.017 Epstein-Barr Virus Infections IL-10 rs1800871 (TC/CC) was associated with a reduced BC risk (OR, 0.74 [95% CI,... BeFree 22095765 Detail
<0.001 Oropharyngeal Carcinoma After adjusting for age, education, ethnicity, gender, and tobacco smoking, IL10... BeFree 20112337 Detail
0.009 glioblastoma In the genetic model analysis, the genotype TC of rs20541 in IL-13 gene showed a... BeFree 23663500 Detail
0.009 hepatitis B This was a retrospective cohort study.We genotyped seven SNPs in the following g... BeFree 25376093 Detail
0.003 Carcinoma of lung After adjusting for age, education, ethnicity, gender, and tobacco smoking, IL10... BeFree 20112337 Detail
0.011 hepatitis B This was a retrospective cohort study.We genotyped seven SNPs in the following g... BeFree 25376093 Detail
0.017 Diabetic Nephropathy These included genetic variants within or near VEGFA, CCR5, CCL2, IL-1, MMP9, EP... BeFree 25280384 Detail
0.376 Behcet Syndrome Genome-wide association studies identify IL23R-IL12RB2 and IL10 as Behçet's dise... GWASCAT 20622879 Detail
0.376 Behcet Syndrome [Genome-wide association studies identify IL23R-IL12RB2 and IL10 as Behcet\'s di... GAD 20622879 Detail
<0.001 glioblastoma In the genetic model analysis, the genotype TC of rs20541 in IL-13 gene showed a... BeFree 23663500 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
Annotation

Annotations

DescrptionSourceLinks
NM_153758.5(IL19):c.-149+2211A>G AND Inflammatory bowel disease ClinVar Detail
NM_153758.5(IL19):c.-149+2211A>G AND Leprosy, susceptibility to, 1 ClinVar Detail
We found that rs1143634 in the interleukin-1β (IL1B) gene and rs1800871 in the interleukin-10 (IL10)... DisGeNET Detail
We found that rs1143634 in the interleukin-1β (IL1B) gene and rs1800871 in the interleukin-10 (IL10)... DisGeNET Detail
Finally, rs1544410 polymorphism within the VDR gene, E2 and E4 alleles within the apoE gene, rs6254 ... DisGeNET Detail
Finally, rs1544410 polymorphism within the VDR gene, E2 and E4 alleles within the apoE gene, rs6254 ... 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
Bayesian correction for multiple comparisons suggests that chance is unlikely to explain our finding... DisGeNET Detail
Bayesian correction for multiple comparisons suggests that chance is unlikely to explain our finding... DisGeNET Detail
Bayesian correction for multiple comparisons suggests that chance is unlikely to explain our finding... DisGeNET Detail
To explore the association of NFKB1 c.-798_-795delATTG (rs28362491), NFKBIA c.-949C&gt;T (rs2233406)... DisGeNET Detail
To explore the association of NFKB1 c.-798_-795delATTG (rs28362491), NFKBIA c.-949C&gt;T (rs2233406)... 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
Carriage of two copies of the 'low IL10' haplotype rs1800896_A/rs1800871_T/rs1800872_A was associate... DisGeNET Detail
After adjusting for age, education, ethnicity, gender, and tobacco smoking, IL10 rs1800871 was inver... DisGeNET Detail
IL-10 rs1800871 (TC/CC) was associated with a reduced BC risk (OR, 0.74 [95% CI, 0.55-1.00]) but had... DisGeNET Detail
After adjusting for age, education, ethnicity, gender, and tobacco smoking, IL10 rs1800871 was inver... DisGeNET Detail
In the genetic model analysis, the genotype TC of rs20541 in IL-13 gene showed an increased risk of ... DisGeNET Detail
This was a retrospective cohort study.We genotyped seven SNPs in the following genes, interleukin (I... DisGeNET Detail
After adjusting for age, education, ethnicity, gender, and tobacco smoking, IL10 rs1800871 was inver... DisGeNET Detail
This was a retrospective cohort study.We genotyped seven SNPs in the following genes, interleukin (I... DisGeNET Detail
These included genetic variants within or near VEGFA, CCR5, CCL2, IL-1, MMP9, EPO, IL-8, ADIPOQ and ... DisGeNET Detail
Genome-wide association studies identify IL23R-IL12RB2 and IL10 as Behçet's disease susceptibility l... DisGeNET Detail
[Genome-wide association studies identify IL23R-IL12RB2 and IL10 as Behcet\'s disease susceptibility... DisGeNET Detail
In the genetic model analysis, the genotype TC of rs20541 in IL-13 gene showed an increased risk of ... 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

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
rs1800871 dbSNP
Genome
hg19
Position
chr1:206,946,634-206,946,634
Variant Type
snv
Reference Allele
A
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))
rs1800871
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3396
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5691
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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