chr2:203867991:A>G Detail (hg38) (CTLA4)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr2:204,732,714-204,732,714 View the variant detail on this assembly version. |
hg38 | chr2:203,867,991-203,867,991 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001037631.2:c.49A>G | NP_001032720.1:p.Thr17Ala |
Ensemble | ENST00000295854.10:c.49A>G | ENST00000295854.10:p.Thr17Ala |
ENST00000487393.1:c.49A>G | ENST00000487393.1:p.Thr17Ala |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.604 |
ToMMo:0.621 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.669 |
Prediction
ClinVar
Clinical Significance |
![]() |
Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() |
2005-04-01 | no assertion criteria provided | Hashimoto thyroiditis, susceptibility to |
![]() |
Detail |
![]() |
2005-04-01 | no assertion criteria provided | Thyroid-associated orbitopathy, susceptibility to |
![]() |
Detail |
![]() |
2005-04-01 | no assertion criteria provided | Systemic lupus erythematosus, susceptibility to |
![]() |
Detail |
![]() |
2005-04-01 | no assertion criteria provided | Celiac disease, susceptibility to, 3 |
![]() |
Detail |
![]() |
2016-03-29 | criteria provided, single submitter | not specified |
![]() |
Detail |
![]() |
2005-04-01 | no assertion criteria provided | TYPE 1 DIABETES MELLITUS 12, SUSCEPTIBILITY TO |
![]() |
Detail |
![]() |
2024-02-01 | criteria provided, single submitter | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency |
![]() |
Detail |
![]() |
2018-11-10 | criteria provided, single submitter | not provided |
![]() ![]() |
Detail |
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 |
---|---|---|
NM_005214.5(CTLA4):c.49A>G (p.Thr17Ala) AND Hashimoto thyroiditis, susceptibility to | ClinVar | Detail |
NM_005214.5(CTLA4):c.49A>G (p.Thr17Ala) AND Thyroid-associated orbitopathy, susceptibility to | ClinVar | Detail |
NM_005214.5(CTLA4):c.49A>G (p.Thr17Ala) AND Systemic lupus erythematosus, susceptibility to | ClinVar | Detail |
NM_005214.5(CTLA4):c.49A>G (p.Thr17Ala) AND Celiac disease, susceptibility to, 3 | ClinVar | Detail |
NM_005214.5(CTLA4):c.49A>G (p.Thr17Ala) AND not specified | ClinVar | Detail |
NM_005214.5(CTLA4):c.49A>G (p.Thr17Ala) AND TYPE 1 DIABETES MELLITUS 12, SUSCEPTIBILITY TO | ClinVar | Detail |
NM_005214.5(CTLA4):c.49A>G (p.Thr17Ala) AND Autoimmune lymphoproliferative syndrome due to CTLA4 hap... | ClinVar | Detail |
NM_005214.5(CTLA4):c.49A>G (p.Thr17Ala) AND not provided | ClinVar | 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 |
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 |
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
- rs231775 dbSNP
- Genome
- hg38
- Position
- chr2:203,867,991-203,867,991
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 60.06
- Standard deviation of sample read depth (HGVD)
- 27.74
- Number of reference allele (HGVD)
- 958
- Number of alternative allele (HGVD)
- 1462
- Allele Frequency (HGVD)
- 0.6041322314049586
- Gene Symbol (HGVD)
- CTLA4
- 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))
- rs231775
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.6206
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 10401
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8638
- East Asian Allele Counts (ExAC)
- 5778
- East Asian Heterozygous Counts (ExAC)
- 1887
- East Asian Homozygous Counts (ExAC)
- 1945
- East Asian Allele Frequency (ExAC)
- 0.668904839083121
- Chromosome Counts in All Race (ExAC)
- 121346
- Allele Counts in All Race (ExAC)
- 49892
- Heterozygous Counts in All Race (ExAC)
- 28131
- Homozygous Counts in All Race (ExAC)
- 10880
- Allele Frequency in All Race (ExAC)
- 0.4111548794356633
Genome browser