chr6:31542308:T>C Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:31,542,308-31,542,308 |
| hg38 | chr6:31,574,531-31,574,531 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:0.178 | |
| 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
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
not provided
|
biliary cirrhosis, primary |
not provided
|
MGS000089
(TMGS000168) |
Minoru Nakamura Minoru Nakamura |
National Hospital Organization Nagasaki Medical Center National Hospital Organization Nagasaki Medical Center |
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site | The following study populations were genotyped for 4 polymorphisms within TNF-be... | BeFree | 18811622 | Detail |
| 0.012 | Malignant neoplasm of ovary | We examined associations between six TNF single nucleotide polymorphisms (SNPs) ... | BeFree | 18196539 | Detail |
| <0.001 | bronchiolitis | The following study populations were genotyped for 4 polymorphisms within TNF-be... | BeFree | 18811622 | Detail |
| 0.027 | Malaria, Falciparum | We examined a possible association of three single nucleotide polymorphisms (SNP... | BeFree | 17493155 | Detail |
| 0.049 | asthma | The following study populations were genotyped for 4 polymorphisms within TNF-be... | BeFree | 18811622 | Detail |
| 0.012 | ovarian carcinoma | We examined associations between six TNF single nucleotide polymorphisms (SNPs) ... | BeFree | 18196539 | Detail |
| 0.025 | Malignant neoplasm of lung | Bayesian correction for multiple comparisons suggests that chance is unlikely to... | BeFree | 20112337 | Detail |
| 0.422 | Crohn Disease | Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's diseas... | GWASCAT | 21102463 | Detail |
| 0.316 | Diabetes Mellitus, Non-Insulin-Dependent | Therefore, this work was planned to evaluate the association of -863C/A (rs18006... | BeFree | 25704106 | Detail |
| 0.017 | Peptic Ulcer | TNFA-308G>A (rs1800629) and TNFA-1031T>C (rs1799964), which are responsibl... | BeFree | 25368751 | 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 |
| 0.007 | Dengue Fever | Presence of combination of HLA-DRB1*07/*15 with either rs1799964 'C/C' genotype ... | BeFree | 23380141 | Detail |
| 0.131 | Crohn Disease | Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's diseas... | GWASCAT | 21102463 | Detail |
| 0.006 | measles | Specifically, the minor allele variant of rs1799964 (TNFA -1211 C>T) was asso... | BeFree | 18715339 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| The following study populations were genotyped for 4 polymorphisms within TNF-beta (rs909253) and TN... | DisGeNET | Detail |
| We examined associations between six TNF single nucleotide polymorphisms (SNPs) (rs1799964, rs180063... | DisGeNET | Detail |
| The following study populations were genotyped for 4 polymorphisms within TNF-beta (rs909253) and TN... | DisGeNET | Detail |
| We examined a possible association of three single nucleotide polymorphisms (SNPs) of the tumor necr... | DisGeNET | Detail |
| The following study populations were genotyped for 4 polymorphisms within TNF-beta (rs909253) and TN... | DisGeNET | Detail |
| We examined associations between six TNF single nucleotide polymorphisms (SNPs) (rs1799964, rs180063... | DisGeNET | Detail |
| Bayesian correction for multiple comparisons suggests that chance is unlikely to explain our finding... | DisGeNET | Detail |
| Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loc... | DisGeNET | Detail |
| Therefore, this work was planned to evaluate the association of -863C/A (rs1800630) and -1031T/C (rs... | DisGeNET | Detail |
| TNFA-308G>A (rs1800629) and TNFA-1031T>C (rs1799964), which are responsible for increased TNFA... | 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 |
| Presence of combination of HLA-DRB1*07/*15 with either rs1799964 'C/C' genotype or rs1800629 'G/A' g... | DisGeNET | Detail |
| Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loc... | DisGeNET | Detail |
| Specifically, the minor allele variant of rs1799964 (TNFA -1211 C>T) was associated with primaril... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs1799964 dbSNP
- Genome
- hg19
- Position
- chr6:31,542,308-31,542,308
- 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))
- rs1799964
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1776
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2976
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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