chr8:73989727:C>G Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr8:74,901,962-74,901,962 View the variant detail on this assembly version. |
| hg38 | chr8:73,989,727-73,989,727 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.165 | |
| 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 | Diabetes Mellitus, Non-Insulin-Dependent | Among the three htSNPs of the entire MD-2 gene, only the rs11465996 might be use... | BeFree | 22266968 | Detail |
| <0.001 | Neonatal necrotizing enterocolitis | In addition, the rs11465996 polymorphism in the MD-2 gene promoter region was fo... | BeFree | 25816011 | Detail |
| 0.003 | Sepsis | Among the three htSNPs of the entire MD-2 gene, only the rs11465996 might be use... | BeFree | 22266968 | Detail |
| <0.001 | Septicemia | Among the three htSNPs of the entire MD-2 gene, only the rs11465996 might be use... | BeFree | 22266968 | Detail |
| 0.009 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.033 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.008 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.005 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.010 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.003 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.098 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.012 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.183 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.422 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.003 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.131 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| <0.001 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.008 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.004 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| <0.001 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.034 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.144 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| <0.001 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.008 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.130 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.187 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.012 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.004 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.131 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| <0.001 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.009 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.012 | ulcerative colitis | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... | BeFree | 24971461 | Detail |
| 0.008 | ulcerative colitis | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... | BeFree | 24971461 | Detail |
| 0.183 | Crohn Disease | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... | BeFree | 24971461 | Detail |
| 0.009 | ulcerative colitis | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... | BeFree | 24971461 | Detail |
| 0.013 | ulcerative colitis | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... | BeFree | 24971461 | Detail |
| 0.009 | Crohn Disease | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... | BeFree | 24971461 | Detail |
| <0.001 | ulcerative colitis | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... | BeFree | 24971461 | Detail |
| 0.327 | ulcerative colitis | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... | BeFree | 24971461 | Detail |
| 0.001 | ulcerative colitis | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... | BeFree | 24971461 | Detail |
| 0.009 | ulcerative colitis | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... | BeFree | 24971461 | Detail |
| 0.131 | ulcerative colitis | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... | BeFree | 24971461 | Detail |
| 0.126 | Crohn Disease | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... | BeFree | 24971461 | Detail |
| 0.295 | ulcerative colitis | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... | BeFree | 24971461 | Detail |
| 0.034 | ulcerative colitis | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... | BeFree | 24971461 | Detail |
| <0.001 | ulcerative colitis | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... | BeFree | 24971461 | Detail |
| 0.187 | ulcerative colitis | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... | BeFree | 24971461 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Among the three htSNPs of the entire MD-2 gene, only the rs11465996 might be used as relevant risk e... | DisGeNET | Detail |
| In addition, the rs11465996 polymorphism in the MD-2 gene promoter region was found to be associated... | DisGeNET | Detail |
| Among the three htSNPs of the entire MD-2 gene, only the rs11465996 might be used as relevant risk e... | DisGeNET | Detail |
| Among the three htSNPs of the entire MD-2 gene, only the rs11465996 might be used as relevant risk e... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... | DisGeNET | Detail |
| The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... | DisGeNET | Detail |
| The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... | DisGeNET | Detail |
| The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... | DisGeNET | Detail |
| The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... | DisGeNET | Detail |
| The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... | DisGeNET | Detail |
| The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... | DisGeNET | Detail |
| The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... | DisGeNET | Detail |
| The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... | DisGeNET | Detail |
| The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... | DisGeNET | Detail |
| The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... | DisGeNET | Detail |
| The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... | DisGeNET | Detail |
| The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... | DisGeNET | Detail |
| The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... | DisGeNET | Detail |
| The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... | DisGeNET | Detail |
| The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs11465996 dbSNP
- Genome
- hg38
- Position
- chr8:73,989,727-73,989,727
- Variant Type
- snv
- Reference Allele
- C
- 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))
- rs11465996
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1648
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2762
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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