chr14:35871093:C>T Detail (hg19) (NFKBIA)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr14:35,871,093-35,871,093 |
| hg38 | chr14:35,401,887-35,401,887 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_020529.2:c.*126G>A | |
| Ensemble | ENST00000557140.5:c.*126G>A | |
| ENST00000697961.1:c.*495G>A |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.309 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2020-11-25 | criteria provided, multiple submitters, no conflicts | ectodermal dysplasia and immunodeficiency 2 |
germline
|
Detail |
|
Benign
|
2018-11-12 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Benign
|
2024-01-24 | criteria provided, single submitter | not specified |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | Nasopharyngeal carcinoma | The rs696AA variant in IκBα had an increased risk of NPC (OR = 1.41, 95% CI = 1.... | BeFree | 26161396 | 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 |
|---|---|---|
| NM_020529.3(NFKBIA):c.*126G>A AND Ectodermal dysplasia and immunodeficiency 2 | ClinVar | Detail |
| NM_020529.3(NFKBIA):c.*126G>A AND not provided | ClinVar | Detail |
| NM_020529.3(NFKBIA):c.*126G>A AND not specified | ClinVar | Detail |
| The rs696AA variant in IκBα had an increased risk of NPC (OR = 1.41, 95% CI = 1.20-1.66, and P = 2.2... | 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 |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs696 dbSNP
- Genome
- hg19
- Position
- chr14:35,871,093-35,871,093
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- 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))
- rs696
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3092
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5183
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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