chr2:113594387:G>A Detail (hg19) (IL1B)

Information

Genome

Assembly Position
hg19 chr2:113,594,387-113,594,387
hg38 chr2:112,836,810-112,836,810 View the variant detail on this assembly version.

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.552
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance risk factor
Review star
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2021-11-04 no assertion criteria provided Gastric cancer susceptibility after h. pylori infection 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
0.002 Rectal Carcinoma Genomic DNA of 159 patients with locally advanced rectal cancer treated with PCR... BeFree 25304949 Detail
0.129 liver carcinoma Six SNPs of five genes (rs1800562 of HFE, rs17868323 and rs11692021 of UGT1A7, r... BeFree 21240526 Detail
0.017 liver carcinoma Six SNPs of five genes (rs1800562 of HFE, rs17868323 and rs11692021 of UGT1A7, r... BeFree 21240526 Detail
0.026 Degenerative polyarthritis A 3-single-nucleotide polymorphism (SNP) IL1B-IL1RN haplotype rs1143627-rs16944-... BeFree 19733643 Detail
0.256 Degenerative polyarthritis A 3-single-nucleotide polymorphism (SNP) IL1B-IL1RN haplotype rs1143627-rs16944-... BeFree 19733643 Detail
<0.001 Rectal Carcinoma Genomic DNA of 159 patients with locally advanced rectal cancer treated with PCR... BeFree 25304949 Detail
<0.001 Rectal Carcinoma Genomic DNA of 159 patients with locally advanced rectal cancer treated with PCR... BeFree 25304949 Detail
0.030 liver carcinoma Six SNPs of five genes (rs1800562 of HFE, rs17868323 and rs11692021 of UGT1A7, r... BeFree 21240526 Detail
<0.001 Rectal Carcinoma Genomic DNA of 159 patients with locally advanced rectal cancer treated with PCR... BeFree 25304949 Detail
0.009 Fatigue Controlling for genomic estimates of ancestry and self-reported race/ethnicity a... BeFree 24632226 Detail
<0.001 Fatigue Controlling for genomic estimates of ancestry and self-reported race/ethnicity a... BeFree 24632226 Detail
0.002 Fatigue Controlling for genomic estimates of ancestry and self-reported race/ethnicity a... BeFree 24632226 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000576.2(IL1B):c.-118C>T AND Gastric cancer susceptibility after h. pylori infection 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
Genomic DNA of 159 patients with locally advanced rectal cancer treated with PCRT was genotyped for ... DisGeNET Detail
Six SNPs of five genes (rs1800562 of HFE, rs17868323 and rs11692021 of UGT1A7, rs2279744 of MDM2, rs... DisGeNET Detail
Six SNPs of five genes (rs1800562 of HFE, rs17868323 and rs11692021 of UGT1A7, rs2279744 of MDM2, rs... DisGeNET Detail
A 3-single-nucleotide polymorphism (SNP) IL1B-IL1RN haplotype rs1143627-rs16944-rs419598 showed a tr... DisGeNET Detail
A 3-single-nucleotide polymorphism (SNP) IL1B-IL1RN haplotype rs1143627-rs16944-rs419598 showed a tr... DisGeNET Detail
Genomic DNA of 159 patients with locally advanced rectal cancer treated with PCRT was genotyped for ... DisGeNET Detail
Genomic DNA of 159 patients with locally advanced rectal cancer treated with PCRT was genotyped for ... DisGeNET Detail
Six SNPs of five genes (rs1800562 of HFE, rs17868323 and rs11692021 of UGT1A7, rs2279744 of MDM2, rs... DisGeNET Detail
Genomic DNA of 159 patients with locally advanced rectal cancer treated with PCRT was genotyped for ... DisGeNET Detail
Controlling for genomic estimates of ancestry and self-reported race/ethnicity and gender, the high ... DisGeNET Detail
Controlling for genomic estimates of ancestry and self-reported race/ethnicity and gender, the high ... DisGeNET Detail
Controlling for genomic estimates of ancestry and self-reported race/ethnicity and gender, the high ... DisGeNET Detail
Gene
-
dbSNP
rs1143627 dbSNP
Genome
hg19
Position
chr2:113,594,387-113,594,387
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs1143627
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5524
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
9258
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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