chr2:203866221:T>C Detail (hg38) (CTLA4)

Information

Genome

Assembly Position
hg19 chr2:204,730,944-204,730,944 View the variant detail on this assembly version.
hg38 chr2:203,866,221-203,866,221

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000696479.1:c.48-1697T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
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
Links
Type Database ID Link
Gene MIM 123890 OMIM
HGNC 2505 HGNC
Ensembl ENSG00000163599 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv10206378 TogoVar
COSMIC
MONDO
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 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

DescrptionSourceLinks
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

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs733618 dbSNP
Genome
hg38
Position
chr2:203,866,221-203,866,221
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
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