chr14:35405593:G>A Detail (hg38) (NFKBIA)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr14:35,874,799-35,874,799 View the variant detail on this assembly version. |
| hg38 | chr14:35,405,593-35,405,593 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.140 | |
| 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 | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2024-01-19 | criteria provided, single submitter | ectodermal dysplasia and immunodeficiency 2 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <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 |
| 0.003 | Respiratory Syncytial Virus Infections | In this study, we quantified the functional impact of NFKBIA promoter polymorphi... | BeFree | 23487427 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NC_000014.9:g.35405593G>A AND Ectodermal dysplasia and immunodeficiency 2 | ClinVar | 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 |
| In this study, we quantified the functional impact of NFKBIA promoter polymorphisms (rs3138053, rs22... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs2233406 dbSNP
- Genome
- hg38
- Position
- chr14:35,405,593-35,405,593
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- 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))
- rs2233406
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1398
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2343
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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