chr2:204738919:G>A Detail (hg19) (CTLA4)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:204,738,919-204,738,919 |
| hg38 | chr2:203,874,196-203,874,196 View the variant detail on this assembly version. |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.272 | |
| 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 |
|---|---|---|---|---|---|
risk factor
|
2011-10-17 | no assertion criteria provided | Hashimoto thyroiditis, susceptibility to |
germline
|
Detail |
|
risk factor
|
2004-09-01 | no assertion criteria provided | Celiac disease, susceptibility to, 3 |
germline
|
Detail |
protective
|
2020-02-10 | no assertion criteria provided | chronic fatigue syndrome with infection-triggered onset |
germline
|
Detail |
|
Benign
|
2024-01-19 | criteria provided, single submitter | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | Wheezing | IL8-rs4073AT, VEGFA-rs833058CT, MBL2-rs1800450CT and IKBKB-rs3747811AT were asso... | BeFree | 25326706 | Detail |
| <0.001 | Wheezing | IL8-rs4073AT, VEGFA-rs833058CT, MBL2-rs1800450CT and IKBKB-rs3747811AT were asso... | BeFree | 25326706 | Detail |
| <0.001 | Wheezing | IL8-rs4073AT, VEGFA-rs833058CT, MBL2-rs1800450CT and IKBKB-rs3747811AT were asso... | BeFree | 25326706 | Detail |
| 0.001 | Wheezing | IL8-rs4073AT, VEGFA-rs833058CT, MBL2-rs1800450CT and IKBKB-rs3747811AT were asso... | BeFree | 25326706 | Detail |
| <0.001 | Wheezing | IL8-rs4073AT, VEGFA-rs833058CT, MBL2-rs1800450CT and IKBKB-rs3747811AT were asso... | BeFree | 25326706 | Detail |
| 0.064 | Autoimmune Diseases | Six autoimmune disease-related risk alleles of CTLA4 (rs1863800, rs733618, rs455... | BeFree | 25003519 | Detail |
| 0.002 | Autoimmune thyroid disease | Furthermore, a joint analysis, with the INS and CTLA4 SNPs, revealed that CTLA4 ... | BeFree | 18940880 | Detail |
| <0.001 | Autoimmune thyroid disease | Furthermore, a joint analysis, with the INS and CTLA4 SNPs, revealed that CTLA4 ... | BeFree | 18940880 | Detail |
| 0.016 | Autoimmune thyroid disease | Furthermore, a joint analysis, with the INS and CTLA4 SNPs, revealed that CTLA4 ... | BeFree | 18940880 | Detail |
| <0.001 | Autoimmune thyroid disease | Furthermore, a joint analysis, with the INS and CTLA4 SNPs, revealed that CTLA4 ... | BeFree | 18940880 | Detail |
| 0.002 | osteosarcoma | The current study evaluated the association of four CTLA-4 gene mutations, -1661... | BeFree | 21612409 | Detail |
| 0.001 | Osteosarcoma of bone | The current study evaluated the association of four CTLA-4 gene mutations, -1661... | BeFree | 21612409 | Detail |
| 0.064 | Autoimmune Diseases | We have evaluated functional polymorphism (rs3087243; in literature known also a... | BeFree | 20491567 | Detail |
| 0.005 | Graves Disease | In this study, we investigated 329 (240 TBII-positive and 89 TBII-negative) GD p... | BeFree | 20300120 | Detail |
| 0.009 | Inflammatory Bowel Diseases | We have evaluated functional polymorphism (rs3087243; in literature known also a... | BeFree | 20491567 | Detail |
| 0.149 | Hashimoto Disease | Taken together, our study suggested that the CT60 polymorphism (rs3087243) in CT... | BeFree | 24697361 | Detail |
| 0.248 | Diabetes Mellitus, Insulin-Dependent | Meta-analysis of genome-wide association study data identifies additional type 1... | GWASCAT | 18978792 | Detail |
| 0.248 | Diabetes Mellitus, Insulin-Dependent | [Eleven of 52 non-MHC T1D loci showed evidence of association with at least one ... | GAD | 21829393 | Detail |
| <0.001 | Hashimoto Disease | Taken together, our study suggested that the CT60 polymorphism (rs3087243) in CT... | BeFree | 24697361 | Detail |
| 0.002 | Autoimmune thyroid disease | CTLA-4 CT60 (rs3087243) polymorphism and autoimmune thyroid diseases susceptibil... | BeFree | 24697361 | Detail |
| 0.001 | Autoimmune Diseases | We have evaluated functional polymorphism (rs3087243; in literature known also a... | BeFree | 20491567 | Detail |
| 0.002 | Diabetes Mellitus, Insulin-Dependent | Furthermore, evidence of a statistical interaction with the known T1D susceptibi... | BeFree | 17209142 | Detail |
| 0.016 | Autoimmune thyroid disease | With respect to the rs3087243 (+6230G>A) polymorphism of CTLA4, the first sis... | BeFree | 19506323 | Detail |
| 0.228 | Graves Disease | Taken together, our study suggested that the CT60 polymorphism (rs3087243) in CT... | BeFree | 24697361 | Detail |
| 0.005 | Graves Disease | Taken together, our study suggested that the CT60 polymorphism (rs3087243) in CT... | BeFree | 24697361 | Detail |
| 0.248 | Diabetes Mellitus, Insulin-Dependent | With respect to the rs3087243 (+6230G>A) polymorphism of CTLA4, the first sis... | BeFree | 19506323 | Detail |
| 0.345 | rheumatoid arthritis | Genome-wide association study meta-analysis identifies seven new rheumatoid arth... | GWASCAT | 20453842 | Detail |
| 0.248 | Diabetes Mellitus, Insulin-Dependent | The aim of this study was to evaluate the association between the rs3087243 poly... | BeFree | 24390983 | Detail |
| 0.248 | Diabetes Mellitus, Insulin-Dependent | Genome-wide association study and meta-analysis find that over 40 loci affect ri... | GWASCAT | 19430480 | Detail |
| 0.016 | Autoimmune thyroid disease | CTLA-4 CT60 (rs3087243) polymorphism and autoimmune thyroid diseases susceptibil... | BeFree | 24697361 | Detail |
| 0.345 | rheumatoid arthritis | Genetics of rheumatoid arthritis contributes to biology and drug discovery. | GWASCAT | 24390342 | Detail |
| 0.345 | rheumatoid arthritis | Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs30... | BeFree | 20498205 | Detail |
| 0.311 | rheumatoid arthritis | Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs30... | BeFree | 20498205 | Detail |
| 0.277 | rheumatoid arthritis | Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs30... | BeFree | 20498205 | Detail |
| 0.317 | rheumatoid arthritis | Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs30... | BeFree | 20498205 | Detail |
| 0.524 | rheumatoid arthritis | Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs30... | BeFree | 20498205 | Detail |
| 0.254 | rheumatoid arthritis | Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs30... | BeFree | 20498205 | Detail |
| 0.129 | rheumatoid arthritis | Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs30... | BeFree | 20498205 | 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.*1148+236G>A AND Hashimoto thyroiditis, susceptibility to | ClinVar | Detail |
| NM_005214.5(CTLA4):c.*1148+236G>A AND Celiac disease, susceptibility to, 3 | ClinVar | Detail |
| NM_005214.5(CTLA4):c.*1148+236G>A AND chronic fatigue syndrome with infection-triggered onset | ClinVar | Detail |
| NM_005214.5(CTLA4):c.*1148+236G>A AND Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsu... | ClinVar | Detail |
| IL8-rs4073AT, VEGFA-rs833058CT, MBL2-rs1800450CT and IKBKB-rs3747811AT were associated with a signif... | DisGeNET | Detail |
| IL8-rs4073AT, VEGFA-rs833058CT, MBL2-rs1800450CT and IKBKB-rs3747811AT were associated with a signif... | DisGeNET | Detail |
| IL8-rs4073AT, VEGFA-rs833058CT, MBL2-rs1800450CT and IKBKB-rs3747811AT were associated with a signif... | DisGeNET | Detail |
| IL8-rs4073AT, VEGFA-rs833058CT, MBL2-rs1800450CT and IKBKB-rs3747811AT were associated with a signif... | DisGeNET | Detail |
| IL8-rs4073AT, VEGFA-rs833058CT, MBL2-rs1800450CT and IKBKB-rs3747811AT were associated with a signif... | DisGeNET | Detail |
| Six autoimmune disease-related risk alleles of CTLA4 (rs1863800, rs733618, rs4553808, rs5742909, rs2... | DisGeNET | Detail |
| Furthermore, a joint analysis, with the INS and CTLA4 SNPs, revealed that CTLA4 rs3087243, ERBB3 rs2... | DisGeNET | Detail |
| Furthermore, a joint analysis, with the INS and CTLA4 SNPs, revealed that CTLA4 rs3087243, ERBB3 rs2... | DisGeNET | Detail |
| Furthermore, a joint analysis, with the INS and CTLA4 SNPs, revealed that CTLA4 rs3087243, ERBB3 rs2... | DisGeNET | Detail |
| Furthermore, a joint analysis, with the INS and CTLA4 SNPs, revealed that CTLA4 rs3087243, ERBB3 rs2... | DisGeNET | Detail |
| The current study evaluated the association of four CTLA-4 gene mutations, -1661A/G (rs4553808), -31... | DisGeNET | Detail |
| The current study evaluated the association of four CTLA-4 gene mutations, -1661A/G (rs4553808), -31... | DisGeNET | Detail |
| We have evaluated functional polymorphism (rs3087243; in literature known also as CTLA4 CT60) in the... | DisGeNET | Detail |
| In this study, we investigated 329 (240 TBII-positive and 89 TBII-negative) GD patients and 378 cont... | DisGeNET | Detail |
| We have evaluated functional polymorphism (rs3087243; in literature known also as CTLA4 CT60) in the... | DisGeNET | Detail |
| Taken together, our study suggested that the CT60 polymorphism (rs3087243) in CTLA-4 gene might conf... | DisGeNET | Detail |
| Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. | DisGeNET | Detail |
| [Eleven of 52 non-MHC T1D loci showed evidence of association with at least one autoantibody at a fa... | DisGeNET | Detail |
| Taken together, our study suggested that the CT60 polymorphism (rs3087243) in CTLA-4 gene might conf... | DisGeNET | Detail |
| CTLA-4 CT60 (rs3087243) polymorphism and autoimmune thyroid diseases susceptibility: a comprehensive... | DisGeNET | Detail |
| We have evaluated functional polymorphism (rs3087243; in literature known also as CTLA4 CT60) in the... | DisGeNET | Detail |
| Furthermore, evidence of a statistical interaction with the known T1D susceptibility-associated CTLA... | DisGeNET | Detail |
| With respect to the rs3087243 (+6230G>A) polymorphism of CTLA4, the first sister had type 1 diabe... | DisGeNET | Detail |
| Taken together, our study suggested that the CT60 polymorphism (rs3087243) in CTLA-4 gene might conf... | DisGeNET | Detail |
| Taken together, our study suggested that the CT60 polymorphism (rs3087243) in CTLA-4 gene might conf... | DisGeNET | Detail |
| With respect to the rs3087243 (+6230G>A) polymorphism of CTLA4, the first sister had type 1 diabe... | DisGeNET | Detail |
| Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. | DisGeNET | Detail |
| The aim of this study was to evaluate the association between the rs3087243 polymorphism of the cyto... | DisGeNET | Detail |
| Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabete... | DisGeNET | Detail |
| CTLA-4 CT60 (rs3087243) polymorphism and autoimmune thyroid diseases susceptibility: a comprehensive... | DisGeNET | Detail |
| Genetics of rheumatoid arthritis contributes to biology and drug discovery. | DisGeNET | Detail |
| Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs3087243 (CTLA4), rs481... | DisGeNET | Detail |
| Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs3087243 (CTLA4), rs481... | DisGeNET | Detail |
| Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs3087243 (CTLA4), rs481... | DisGeNET | Detail |
| Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs3087243 (CTLA4), rs481... | DisGeNET | Detail |
| Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs3087243 (CTLA4), rs481... | DisGeNET | Detail |
| Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs3087243 (CTLA4), rs481... | DisGeNET | Detail |
| Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs3087243 (CTLA4), rs481... | 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 |
- Gene
- -
- dbSNP
- rs3087243 dbSNP
- Genome
- hg19
- Position
- chr2:204,738,919-204,738,919
- 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))
- rs3087243
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.2717
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 4553
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- MMMP State (molecule) (MMMP)
- polymorphism rs3087243
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