chr2:112836810:G>A Detail (hg38) (IL1B)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:113,594,387-113,594,387 View the variant detail on this assembly version. |
| hg38 | chr2:112,836,810-112,836,810 |
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
| Descrption | Source | Links |
|---|---|---|
| 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
- hg38
- Position
- chr2:112,836,810-112,836,810
- 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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