chr2:204732714:A>T Detail (hg19) (CTLA4)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:204,732,714-204,732,714 |
| hg38 | chr2:203,867,991-203,867,991 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001037631.2:c.49A>T | NP_001032720.1:p.Thr17Ser |
| Ensemble | ENST00000295854.10:c.49A>T | ENST00000295854.10:p.Thr17Ser |
| ENST00000487393.1:c.49A>T | ENST00000487393.1:p.Thr17Ser |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.064 | Autoimmune Diseases | Association of GV with CTLA4 (rs12992492, P=5.9E-05, OR=1.20; meta-P for rs23177... | BeFree | 21085187 | Detail |
| <0.001 | Generalized vitiligo | Association of GV with CTLA4 (rs12992492, P=5.9E-05, OR=1.20; meta-P for rs23177... | BeFree | 21085187 | Detail |
| 0.055 | asthma | To investigate associations between total serum immunoglobulin E (IgE) levels an... | BeFree | 22376040 | Detail |
| 0.038 | asthma | To investigate associations between total serum immunoglobulin E (IgE) levels an... | BeFree | 22376040 | Detail |
| 0.266 | asthma | To investigate associations between total serum immunoglobulin E (IgE) levels an... | BeFree | 22376040 | Detail |
| 0.275 | Diabetes Mellitus, Insulin-Dependent | Our data indicate that CTLA-4 exon 1 position 49 A/G dimorphism was significantl... | BeFree | 9690057 | Detail |
| 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 |
| 0.248 | Diabetes Mellitus, Insulin-Dependent | CTLA-4 49 A/G dimorphism and type 1 diabetes susceptibility: a French case-contr... | BeFree | 12047362 | Detail |
| 0.248 | Diabetes Mellitus, Insulin-Dependent | Association of the CTLA-4 gene 49 A/G polymorphism with type 1 diabetes and auto... | BeFree | 12610047 | Detail |
| 0.345 | rheumatoid arthritis | CTLA4 exon1 A49G polymorphism in Slovak patients with rheumatoid arthritis and H... | BeFree | 21503616 | Detail |
| 0.002 | osteosarcoma | The current study evaluated the association of four CTLA-4 gene mutations, -1661... | BeFree | 21612409 | Detail |
| 0.248 | Diabetes Mellitus, Insulin-Dependent | Association of CTLA-4 gene 49A/G polymorphism with the incidence of type 1 diabe... | BeFree | 24517008 | Detail |
| <0.001 | Uveomeningoencephalitic Syndrome | In this study, we investigated the association of CTLA-4 gene polymorphisms (- 1... | BeFree | 18282809 | Detail |
| 0.016 | Autoimmune thyroid disease | 49A/G and CT60 polymorphisms of the cytotoxic T-lymphocyte-associated antigen 4 ... | BeFree | 19559744 | Detail |
| <0.001 | Juvenile arthritis | Families of 531 children with JIA were genotyped for SNPs located in the promote... | BeFree | 18576317 | Detail |
| <0.001 | Mucocutaneous Lymph Node Syndrome | CTLA-4, position 49 A/G polymorphism associated with coronary artery lesions in ... | BeFree | 21082224 | Detail |
| 0.019 | Behcet Syndrome | The role of CTLA-4 exon-1 49 A/G polymorphism and soluble CTLA-4 protein level i... | BeFree | 24991555 | Detail |
| 0.248 | Diabetes Mellitus, Insulin-Dependent | Association between IL-18 gene promoter polymorphisms and CTLA-4 gene 49A/G poly... | BeFree | 14709415 | Detail |
| 0.016 | Autoimmune thyroid disease | Association of the CTLA-4 gene 49 A/G polymorphism with type 1 diabetes and auto... | BeFree | 12610047 | Detail |
| 0.016 | Autoimmune thyroid disease | CTLA-4 and autoimmune thyroid disease: lack of influence of the A49G signal pept... | BeFree | 12202150 | Detail |
| 0.019 | Behcet Syndrome | CTLA-4 gene 49A/G polymorphism in Turkish patients with Behçet's disease. | BeFree | 16045690 | Detail |
| 0.068 | Lupus Erythematosus, Systemic | [The genetic contribution towards predicting early-onset disease in patients wit... | GAD | 20881011 | Detail |
| 0.248 | Diabetes Mellitus, Insulin-Dependent | The influence of polymorphisms of INS(-23Hph1), CTLA-4(T17A), and PTPN22(R620W) ... | BeFree | 19188433 | Detail |
| 0.149 | Hashimoto Disease | CTLA4 exon1 A49G polymorphism in Slovak patients with rheumatoid arthritis and H... | BeFree | 21503616 | Detail |
| 0.120 | CELIAC DISEASE, SUSCEPTIBILITY TO, 3 (finding) | NA | CLINVAR | Detail | |
| 0.002 | Disorder of eye | We investigated the distribution of CTLA-4 A49G polymorphism in 264 Caucasian pa... | BeFree | 12534352 | Detail |
| 0.475 | Diabetes Mellitus, Insulin-Dependent | Association of PTPN22 C1858T and CTLA-4 A49G polymorphisms with Type 1 Diabetes ... | BeFree | 19815302 | Detail |
| 0.025 | Diabetes Mellitus, Insulin-Dependent | Association between IL-18 gene promoter polymorphisms and CTLA-4 gene 49A/G poly... | BeFree | 14709415 | Detail |
| 0.064 | Autoimmune Diseases | The cytotoxic T lymphocyte-associated antigen (CTLA)-4 molecule plays an importa... | BeFree | 16045690 | Detail |
| 0.371 | Diabetes Mellitus, Insulin-Dependent | The influence of polymorphisms of INS(-23Hph1), CTLA-4(T17A), and PTPN22(R620W) ... | BeFree | 19188433 | Detail |
| 0.064 | Autoimmune Diseases | Gene polymorphisms involving CTLA-4 promoter (-318 C/T), exon 1 (49 A/G), and ex... | BeFree | 12225635 | Detail |
| 0.248 | Diabetes Mellitus, Insulin-Dependent | This meta-analysis demonstrated that the G allele of rs231775 of CTLA-4 is a ris... | BeFree | 23261825 | Detail |
| 0.248 | Diabetes Mellitus, Insulin-Dependent | Association of PTPN22 C1858T and CTLA-4 A49G polymorphisms with Type 1 Diabetes ... | BeFree | 19815302 | Detail |
| 0.009 | Malignant neoplasm of breast | The ctla-4 49A/G polymorphism was studied in 197 women with primary breast cance... | BeFree | 15218356 | Detail |
| 0.001 | Osteosarcoma of bone | The current study evaluated the association of four CTLA-4 gene mutations, -1661... | BeFree | 21612409 | Detail |
| 0.003 | thyroiditis | Updated analysis of studies on the cytotoxic T-lymphocyte-associated antigen-4 g... | BeFree | 23661465 | Detail |
| 0.228 | Graves Disease | The CTLA-4 49 A/G polymorphism was detected by the PCR-restriction fragment-leng... | BeFree | 12610047 | Detail |
| <0.001 | juvenile rheumatoid arthritis | Families of 531 children with JIA were genotyped for SNPs located in the promote... | BeFree | 18576317 | Detail |
| 0.228 | Graves Disease | Particularly, association of three polymorphic markers of CTLA4 gene, namely, C(... | BeFree | 18752454 | Detail |
| 0.248 | Diabetes Mellitus, Insulin-Dependent | This meta-analysis demonstrated that the G49A and C60T polymorphism of CTLA4 is ... | BeFree | 24465825 | Detail |
| 0.019 | Behcet Syndrome | We analysed the SNPs -318C/T and 49A/G in CTLA-4 in patients with Behcet's disea... | BeFree | 18498289 | Detail |
| 0.002 | breast carcinoma | The ctla-4 49A/G polymorphism was studied in 197 women with primary breast cance... | BeFree | 15218356 | Detail |
| 0.002 | Autoimmune thyroid disease | 49A/G and CT60 polymorphisms of the cytotoxic T-lymphocyte-associated antigen 4 ... | BeFree | 19559744 | Detail |
| <0.001 | Generalized vitiligo | Examination of five SNPs in the CTLA4 gene (rs1863800, rs231775, rs3087243, rs11... | BeFree | 18200060 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Association of GV with CTLA4 (rs12992492, P=5.9E-05, OR=1.20; meta-P for rs231775=1.0E-04) seems to ... | DisGeNET | Detail |
| Association of GV with CTLA4 (rs12992492, P=5.9E-05, OR=1.20; meta-P for rs231775=1.0E-04) seems to ... | DisGeNET | Detail |
| To investigate associations between total serum immunoglobulin E (IgE) levels and single nucleotide ... | DisGeNET | Detail |
| To investigate associations between total serum immunoglobulin E (IgE) levels and single nucleotide ... | DisGeNET | Detail |
| To investigate associations between total serum immunoglobulin E (IgE) levels and single nucleotide ... | DisGeNET | Detail |
| Our data indicate that CTLA-4 exon 1 position 49 A/G dimorphism was significantly associated with pr... | DisGeNET | Detail |
| 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 49 A/G dimorphism and type 1 diabetes susceptibility: a French case-control study and segrega... | DisGeNET | Detail |
| Association of the CTLA-4 gene 49 A/G polymorphism with type 1 diabetes and autoimmune thyroid disea... | DisGeNET | Detail |
| CTLA4 exon1 A49G polymorphism in Slovak patients with rheumatoid arthritis and Hashimoto thyroiditis... | DisGeNET | Detail |
| The current study evaluated the association of four CTLA-4 gene mutations, -1661A/G (rs4553808), -31... | DisGeNET | Detail |
| Association of CTLA-4 gene 49A/G polymorphism with the incidence of type 1 diabetes mellitus in the ... | DisGeNET | Detail |
| In this study, we investigated the association of CTLA-4 gene polymorphisms (- 1661A/G; - 318C/T; + ... | DisGeNET | Detail |
| 49A/G and CT60 polymorphisms of the cytotoxic T-lymphocyte-associated antigen 4 gene associated with... | DisGeNET | Detail |
| Families of 531 children with JIA were genotyped for SNPs located in the promoter region (C-318T), e... | DisGeNET | Detail |
| CTLA-4, position 49 A/G polymorphism associated with coronary artery lesions in Kawasaki disease. | DisGeNET | Detail |
| The role of CTLA-4 exon-1 49 A/G polymorphism and soluble CTLA-4 protein level in egyptian patients ... | DisGeNET | Detail |
| Association between IL-18 gene promoter polymorphisms and CTLA-4 gene 49A/G polymorphism in Japanese... | DisGeNET | Detail |
| Association of the CTLA-4 gene 49 A/G polymorphism with type 1 diabetes and autoimmune thyroid disea... | DisGeNET | Detail |
| CTLA-4 and autoimmune thyroid disease: lack of influence of the A49G signal peptide polymorphism on ... | DisGeNET | Detail |
| CTLA-4 gene 49A/G polymorphism in Turkish patients with Behçet's disease. | DisGeNET | Detail |
| [The genetic contribution towards predicting early-onset disease in patients with SLE is quantified ... | DisGeNET | Detail |
| The influence of polymorphisms of INS(-23Hph1), CTLA-4(T17A), and PTPN22(R620W) on development of pe... | DisGeNET | Detail |
| CTLA4 exon1 A49G polymorphism in Slovak patients with rheumatoid arthritis and Hashimoto thyroiditis... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We investigated the distribution of CTLA-4 A49G polymorphism in 264 Caucasian patients with Graves' ... | DisGeNET | Detail |
| Association of PTPN22 C1858T and CTLA-4 A49G polymorphisms with Type 1 Diabetes in Croatians. | DisGeNET | Detail |
| Association between IL-18 gene promoter polymorphisms and CTLA-4 gene 49A/G polymorphism in Japanese... | DisGeNET | Detail |
| The cytotoxic T lymphocyte-associated antigen (CTLA)-4 molecule plays an important role in immune re... | DisGeNET | Detail |
| The influence of polymorphisms of INS(-23Hph1), CTLA-4(T17A), and PTPN22(R620W) on development of pe... | DisGeNET | Detail |
| Gene polymorphisms involving CTLA-4 promoter (-318 C/T), exon 1 (49 A/G), and exon 4 (microsatellite... | DisGeNET | Detail |
| This meta-analysis demonstrated that the G allele of rs231775 of CTLA-4 is a risk factor associated ... | DisGeNET | Detail |
| Association of PTPN22 C1858T and CTLA-4 A49G polymorphisms with Type 1 Diabetes in Croatians. | DisGeNET | Detail |
| The ctla-4 49A/G polymorphism was studied in 197 women with primary breast cancer and 151 age/sex ma... | DisGeNET | Detail |
| The current study evaluated the association of four CTLA-4 gene mutations, -1661A/G (rs4553808), -31... | DisGeNET | Detail |
| Updated analysis of studies on the cytotoxic T-lymphocyte-associated antigen-4 gene A49G polymorphis... | DisGeNET | Detail |
| The CTLA-4 49 A/G polymorphism was detected by the PCR-restriction fragment-length polymorphism (RFL... | DisGeNET | Detail |
| Families of 531 children with JIA were genotyped for SNPs located in the promoter region (C-318T), e... | DisGeNET | Detail |
| Particularly, association of three polymorphic markers of CTLA4 gene, namely, C(-318)T, A49G, and (A... | DisGeNET | Detail |
| This meta-analysis demonstrated that the G49A and C60T polymorphism of CTLA4 is a risk factor associ... | DisGeNET | Detail |
| We analysed the SNPs -318C/T and 49A/G in CTLA-4 in patients with Behcet's disease (BD), patients wi... | DisGeNET | Detail |
| The ctla-4 49A/G polymorphism was studied in 197 women with primary breast cancer and 151 age/sex ma... | DisGeNET | Detail |
| 49A/G and CT60 polymorphisms of the cytotoxic T-lymphocyte-associated antigen 4 gene associated with... | DisGeNET | Detail |
| Examination of five SNPs in the CTLA4 gene (rs1863800, rs231775, rs3087243, rs11571302, rs11571297, ... | DisGeNET | Detail |
| Influence of cytotoxic T lymphocyte-associated antigen 4 (CTLA4) common polymorphisms on outcome in ... | MMMP | 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
- -
- Genome
- hg19
- Position
- chr2:204,732,714-204,732,714
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8638
- East Asian Allele Counts (ExAC)
- 1
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 1.1576753878212549E-4
- Chromosome Counts in All Race (ExAC)
- 121346
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 0
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.240897928238261E-6
- MMMP State (molecule) (MMMP)
- polymorphism rs231775
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