chr16:10877045:G>A Detail (hg38) (CIITA)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:10,970,902-10,970,902 View the variant detail on this assembly version. |
| hg38 | chr16:10,877,045-10,877,045 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.162 | |
| 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
|
2024-01-22 | criteria provided, single submitter | MHC class II deficiency |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.001 | myocardial infarction | A promoter polymorphism (-168A/G, rs3087456) in the MHC2TA gene was associated w... | BeFree | 17012290 | Detail |
| 0.006 | rheumatoid arthritis | The effect of the MHC2TA rs3087456G/rs4774C haplotype on RA susceptibility was c... | BeFree | 19221398 | Detail |
| 0.006 | rheumatoid arthritis | 1302 patients fulfilling the 1987 ACR classification criteria for RA were genoty... | BeFree | 22272574 | Detail |
| 0.253 | rheumatoid arthritis | We analysed whether the single nucleotide polymorphism (SNP) rs3087456 in the pr... | BeFree | 16426246 | Detail |
| 0.136 | multiple sclerosis | We analysed whether the single nucleotide polymorphism (SNP) rs3087456 in the pr... | BeFree | 16426246 | Detail |
| 0.005 | Autoimmune Diseases | The MHC2TA -168 A-->G single nucleotide polymorphism (rs3087456) has been sug... | BeFree | 16849401 | Detail |
| 0.005 | Autoimmune Diseases | A CIITA promoter single-nucleotide polymorphism (SNP), rs3087456 (-168 A/G), has... | BeFree | 22513452 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NC_000016.10:g.10877045G>A AND MHC class II deficiency | ClinVar | Detail |
| A promoter polymorphism (-168A/G, rs3087456) in the MHC2TA gene was associated with increased suscep... | DisGeNET | Detail |
| The effect of the MHC2TA rs3087456G/rs4774C haplotype on RA susceptibility was confirmed, and the ha... | DisGeNET | Detail |
| 1302 patients fulfilling the 1987 ACR classification criteria for RA were genotyped for the MHCIITA ... | DisGeNET | Detail |
| We analysed whether the single nucleotide polymorphism (SNP) rs3087456 in the promoter of the MHC cl... | DisGeNET | Detail |
| We analysed whether the single nucleotide polymorphism (SNP) rs3087456 in the promoter of the MHC cl... | DisGeNET | Detail |
| The MHC2TA -168 A-->G single nucleotide polymorphism (rs3087456) has been suggested to confer sus... | DisGeNET | Detail |
| A CIITA promoter single-nucleotide polymorphism (SNP), rs3087456 (-168 A/G), has indeed been associa... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs3087456 dbSNP
- Genome
- hg38
- Position
- chr16:10,877,045-10,877,045
- 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))
- rs3087456
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1625
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2723
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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