chr4:103422159:ATTG> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr4:103,422,159-103,422,162 |
| hg38 | chr4:102,501,002-102,501,005 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.362 | |
| 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 |
|---|---|---|---|---|---|
| 0.002 | 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 |
| <0.001 | 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 |
| 0.008 | Crohn Disease | Genotypes of nuclear factor (NF)-κB (NFKB1) NFκB -94ins/del (rs28362491); peroxi... | BeFree | 21245992 | Detail |
| 0.131 | ulcerative colitis | Genotypes of nuclear factor (NF)-κB (NFKB1) NFκB -94ins/del (rs28362491); peroxi... | BeFree | 21245992 | Detail |
| 0.007 | Crohn Disease | Genotypes of nuclear factor (NF)-κB (NFKB1) NFκB -94ins/del (rs28362491); peroxi... | BeFree | 21245992 | Detail |
| 0.277 | Heart failure | We evaluated nuclear factor kappa B {NFkB, rs28362491 [-94ins/delATTG (W/D)]} an... | BeFree | 23543433 | Detail |
| 0.024 | congestive heart failure | We evaluated nuclear factor kappa B {NFkB, rs28362491 [-94ins/delATTG (W/D)]} an... | BeFree | 23543433 | Detail |
| <0.001 | breast carcinoma | To explore the association of NFKB1 c.-798_-795delATTG (rs28362491), NFKBIA c.-9... | BeFree | 25559835 | Detail |
| 0.003 | Malignant neoplasm of breast | To explore the association of NFKB1 c.-798_-795delATTG (rs28362491), NFKBIA c.-9... | BeFree | 25559835 | Detail |
| <0.001 | Helicobacter pylori infection | We investigated the influence of NFKB1 polymorphisms, -94 ins/del (rs28362491) a... | BeFree | 22614238 | Detail |
| 0.020 | rheumatoid arthritis | NFKB1-94ATTG ins/del polymorphism (rs28362491) is associated with cardiovascular... | BeFree | 22742859 | Detail |
| <0.001 | Cardiovascular Diseases | NFKB1-94ATTG ins/del polymorphism (rs28362491) is associated with cardiovascular... | BeFree | 22742859 | 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 |
|---|---|---|
| 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 |
| 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 |
| Genotypes of nuclear factor (NF)-κB (NFKB1) NFκB -94ins/del (rs28362491); peroxisome proliferator-ac... | DisGeNET | Detail |
| Genotypes of nuclear factor (NF)-κB (NFKB1) NFκB -94ins/del (rs28362491); peroxisome proliferator-ac... | DisGeNET | Detail |
| Genotypes of nuclear factor (NF)-κB (NFKB1) NFκB -94ins/del (rs28362491); peroxisome proliferator-ac... | DisGeNET | Detail |
| We evaluated nuclear factor kappa B {NFkB, rs28362491 [-94ins/delATTG (W/D)]} and angiotensin conver... | DisGeNET | Detail |
| We evaluated nuclear factor kappa B {NFkB, rs28362491 [-94ins/delATTG (W/D)]} and angiotensin conver... | DisGeNET | Detail |
| To explore the association of NFKB1 c.-798_-795delATTG (rs28362491), NFKBIA c.-949C>T (rs2233406)... | DisGeNET | Detail |
| To explore the association of NFKB1 c.-798_-795delATTG (rs28362491), NFKBIA c.-949C>T (rs2233406)... | DisGeNET | Detail |
| We investigated the influence of NFKB1 polymorphisms, -94 ins/del (rs28362491) and -449 C>G (rs72... | DisGeNET | Detail |
| NFKB1-94ATTG ins/del polymorphism (rs28362491) is associated with cardiovascular disease in patients... | DisGeNET | Detail |
| NFKB1-94ATTG ins/del polymorphism (rs28362491) is associated with cardiovascular disease in patients... | 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
- rs28362491 dbSNP
- Genome
- hg19
- Position
- chr4:103,422,159-103,422,162
- Variant Type
- snv
- Reference Allele
- ATTG
- Alternative Allele
- -
- 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))
- rs28362491
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3616
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 6060
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
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