chr1:186681619:T>C Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:186,650,751-186,650,751 View the variant detail on this assembly version. |
| hg38 | chr1:186,681,619-186,681,619 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.467 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
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 |
| 0.037 | Malignant neoplasm of stomach | In the Chinese subgroup, nominally significant associations were shown between (... | BeFree | 21649724 | Detail |
| 0.031 | stomach carcinoma | In the Chinese subgroup, nominally significant associations were shown between (... | BeFree | 21649724 | Detail |
| 0.005 | Helicobacter pylori infection | In the Chinese subgroup, nominally significant associations were shown between (... | BeFree | 21649724 | Detail |
| 0.065 | Malignant neoplasm of stomach | In the Chinese subgroup, nominally significant associations were shown between (... | BeFree | 21649724 | Detail |
| 0.006 | colorectal carcinoma | The polymorphisms IL10 C-592A (rs1800872), C-rs3024505-T, IL1b C-3737T (rs484830... | BeFree | 24194923 | Detail |
| 0.028 | stomach carcinoma | In the Chinese subgroup, nominally significant associations were shown between (... | BeFree | 21649724 | Detail |
| 0.027 | Helicobacter pylori infection | In the Chinese subgroup, nominally significant associations were shown between (... | BeFree | 21649724 | Detail |
| 0.075 | Malignant neoplasm of breast | Association of the three common SNPs of cyclooxygenase-2 gene (rs20417, rs689466... | BeFree | 25214704 | Detail |
| 0.044 | breast carcinoma | Association of the three common SNPs of cyclooxygenase-2 gene (rs20417, rs689466... | BeFree | 25214704 | Detail |
| 0.019 | prostate carcinoma | After adjustment for confounders, polymorphisms in COX-2 (rs689466) and IL-8 (rs... | BeFree | 20431935 | Detail |
| 0.025 | Malignant neoplasm of prostate | After adjustment for confounders, polymorphisms in COX-2 (rs689466) and IL-8 (rs... | BeFree | 20431935 | Detail |
| 0.048 | Malignant neoplasm of prostate | After adjustment for confounders, polymorphisms in COX-2 (rs689466) and IL-8 (rs... | BeFree | 20431935 | Detail |
| 0.011 | prostate carcinoma | After adjustment for confounders, polymorphisms in COX-2 (rs689466) and IL-8 (rs... | BeFree | 20431935 | Detail |
| <0.001 | gallbladder carcinoma | Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... | BeFree | 21283657 | Detail |
| <0.001 | gallbladder carcinoma | Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... | BeFree | 21283657 | Detail |
| <0.001 | gallbladder carcinoma | Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... | BeFree | 21283657 | Detail |
| <0.001 | gallbladder carcinoma | Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... | BeFree | 21283657 | Detail |
| <0.001 | gallbladder carcinoma | Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... | BeFree | 21283657 | Detail |
| <0.001 | Malignant neoplasm of gallbladder | Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... | BeFree | 21283657 | Detail |
| <0.001 | Malignant neoplasm of gallbladder | Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... | BeFree | 21283657 | Detail |
| 0.001 | Malignant neoplasm of gallbladder | Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... | BeFree | 21283657 | Detail |
| 0.006 | skin carcinoma | [Association of the polymorphism to risk of basal cell carcinoma, such that high... | GAD | 17307204 | Detail |
| <0.001 | Malignant neoplasm of gallbladder | Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... | BeFree | 21283657 | Detail |
| <0.001 | Malignant neoplasm of gallbladder | Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... | BeFree | 21283657 | Detail |
| 0.001 | gallbladder carcinoma | Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... | BeFree | 21283657 | Detail |
| <0.001 | Malignant neoplasm of gallbladder | Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... | BeFree | 21283657 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| 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 |
| In the Chinese subgroup, nominally significant associations were shown between (i) EBBR2+1963G (rs18... | DisGeNET | Detail |
| In the Chinese subgroup, nominally significant associations were shown between (i) EBBR2+1963G (rs18... | DisGeNET | Detail |
| In the Chinese subgroup, nominally significant associations were shown between (i) EBBR2+1963G (rs18... | DisGeNET | Detail |
| In the Chinese subgroup, nominally significant associations were shown between (i) EBBR2+1963G (rs18... | DisGeNET | Detail |
| The polymorphisms IL10 C-592A (rs1800872), C-rs3024505-T, IL1b C-3737T (rs4848306), G-1464C (rs11436... | DisGeNET | Detail |
| In the Chinese subgroup, nominally significant associations were shown between (i) EBBR2+1963G (rs18... | DisGeNET | Detail |
| In the Chinese subgroup, nominally significant associations were shown between (i) EBBR2+1963G (rs18... | DisGeNET | Detail |
| Association of the three common SNPs of cyclooxygenase-2 gene (rs20417, rs689466, and rs5275) with t... | DisGeNET | Detail |
| Association of the three common SNPs of cyclooxygenase-2 gene (rs20417, rs689466, and rs5275) with t... | DisGeNET | Detail |
| After adjustment for confounders, polymorphisms in COX-2 (rs689466) and IL-8 (rs4073) were not signi... | DisGeNET | Detail |
| After adjustment for confounders, polymorphisms in COX-2 (rs689466) and IL-8 (rs4073) were not signi... | DisGeNET | Detail |
| After adjustment for confounders, polymorphisms in COX-2 (rs689466) and IL-8 (rs4073) were not signi... | DisGeNET | Detail |
| After adjustment for confounders, polymorphisms in COX-2 (rs689466) and IL-8 (rs4073) were not signi... | DisGeNET | Detail |
| Single locus analysis by logistic regression showed association of MSH2 IVS1+9G>C (rs2303426), ER... | DisGeNET | Detail |
| Single locus analysis by logistic regression showed association of MSH2 IVS1+9G>C (rs2303426), ER... | DisGeNET | Detail |
| Single locus analysis by logistic regression showed association of MSH2 IVS1+9G>C (rs2303426), ER... | DisGeNET | Detail |
| Single locus analysis by logistic regression showed association of MSH2 IVS1+9G>C (rs2303426), ER... | DisGeNET | Detail |
| Single locus analysis by logistic regression showed association of MSH2 IVS1+9G>C (rs2303426), ER... | DisGeNET | Detail |
| Single locus analysis by logistic regression showed association of MSH2 IVS1+9G>C (rs2303426), ER... | DisGeNET | Detail |
| Single locus analysis by logistic regression showed association of MSH2 IVS1+9G>C (rs2303426), ER... | DisGeNET | Detail |
| Single locus analysis by logistic regression showed association of MSH2 IVS1+9G>C (rs2303426), ER... | DisGeNET | Detail |
| [Association of the polymorphism to risk of basal cell carcinoma, such that high COX-2 levels are as... | DisGeNET | Detail |
| Single locus analysis by logistic regression showed association of MSH2 IVS1+9G>C (rs2303426), ER... | DisGeNET | Detail |
| Single locus analysis by logistic regression showed association of MSH2 IVS1+9G>C (rs2303426), ER... | DisGeNET | Detail |
| Single locus analysis by logistic regression showed association of MSH2 IVS1+9G>C (rs2303426), ER... | DisGeNET | Detail |
| Single locus analysis by logistic regression showed association of MSH2 IVS1+9G>C (rs2303426), ER... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs689466 dbSNP
- Genome
- hg38
- Position
- chr1:186,681,619-186,681,619
- 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))
- rs689466
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4665
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 7819
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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