chr2:204730944:T>C Detail (hg19) (CTLA4)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:204,730,944-204,730,944 |
| hg38 | chr2:203,866,221-203,866,221 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000696479.1:c.48-1697T>C |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | |
| GWAS entry | 1 |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.410 | |
| 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 | |
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 |
|---|---|---|---|---|---|
| 0.064 | Autoimmune Diseases | Six autoimmune disease-related risk alleles of CTLA4 (rs1863800, rs733618, rs455... | BeFree | 25003519 | Detail |
| 0.005 | thymoma | A predisposing effect of rs1863800*C, rs733618*C, and rs231775*G of CTLA4 gene t... | BeFree | 25003519 | Detail |
| 0.068 | Lupus Erythematosus, Systemic | CTLA-4 -1722T/C polymorphism and systemic lupus erythematosus susceptibility: a ... | BeFree | 23323522 | Detail |
| 0.068 | Lupus Erythematosus, Systemic | Overall, there was significant association between the 1722T/C polymorphism and ... | BeFree | 23922195 | Detail |
| 0.002 | Diabetes Mellitus, Insulin-Dependent | We assessed the association of five SNPs present in the CTLA-4 gene [-318C/T, -1... | BeFree | 16671945 | Detail |
| 0.068 | Lupus Erythematosus, Systemic | CTLA-4 SNPs (CT60A/G, -1722T/C, -1661G/A, and -318C/T) and systemic lupus erythe... | BeFree | 24940764 | Detail |
| 0.025 | systemic scleroderma | We examined the relationship between five gene polymorphisms [cytotoxic T lympho... | BeFree | 22173230 | Detail |
| 0.017 | systemic scleroderma | We examined the relationship between five gene polymorphisms [cytotoxic T lympho... | BeFree | 22173230 | Detail |
| <0.001 | Periodontitis, Juvenile | In addition, comparison of CTLA-4 SNPs between patients with CP and aggressive p... | BeFree | 22497911 | Detail |
| 0.257 | systemic scleroderma | We examined the relationship between five gene polymorphisms [cytotoxic T lympho... | BeFree | 22173230 | Detail |
| <0.001 | Lupus Erythematosus, Systemic | These results suggest that there is evidence of association between the CLTA-4 a... | BeFree | 23261408 | Detail |
| 0.038 | asthma | [We replicated asthma associations for a minority of candidate genes.] | GAD | 19264973 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Six autoimmune disease-related risk alleles of CTLA4 (rs1863800, rs733618, rs4553808, rs5742909, rs2... | DisGeNET | Detail |
| A predisposing effect of rs1863800*C, rs733618*C, and rs231775*G of CTLA4 gene to general risk of MG... | DisGeNET | Detail |
| CTLA-4 -1722T/C polymorphism and systemic lupus erythematosus susceptibility: a meta-analysis involv... | DisGeNET | Detail |
| Overall, there was significant association between the 1722T/C polymorphism and overall SLE risks (O... | DisGeNET | Detail |
| We assessed the association of five SNPs present in the CTLA-4 gene [-318C/T, -1661A/G and -1722C/T ... | DisGeNET | Detail |
| CTLA-4 SNPs (CT60A/G, -1722T/C, -1661G/A, and -318C/T) and systemic lupus erythematosus: a meta-anal... | DisGeNET | Detail |
| We examined the relationship between five gene polymorphisms [cytotoxic T lymphocyte associated anti... | DisGeNET | Detail |
| We examined the relationship between five gene polymorphisms [cytotoxic T lymphocyte associated anti... | DisGeNET | Detail |
| In addition, comparison of CTLA-4 SNPs between patients with CP and aggressive periodontitis (AgP) r... | DisGeNET | Detail |
| We examined the relationship between five gene polymorphisms [cytotoxic T lymphocyte associated anti... | DisGeNET | Detail |
| These results suggest that there is evidence of association between the CLTA-4 and SLE, especially -... | DisGeNET | Detail |
| [We replicated asthma associations for a minority of candidate genes.] | DisGeNET | Detail |
| Influence of cytotoxic T lymphocyte-associated antigen 4 (CTLA4) common polymorphisms on outcome in ... | MMMP | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs733618 dbSNP
- Genome
- hg19
- Position
- chr2:204,730,944-204,730,944
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- 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))
- rs733618
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4103
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 6877
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- MMMP State (molecule) (MMMP)
- polymorphism rs733618
Genome browser