chr2:204731005:A>G Detail (hg19) (CTLA4)

Information

Genome

Assembly Position
hg19 chr2:204,731,005-204,731,005
hg38 chr2:203,866,282-203,866,282 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000696479.1:c.48-1636A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.109
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 tgv10206381 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
0.002 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
0.002 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
0.022 Thyroid associated opthalmopathies In this study, associations of five CTLA4 single nucleotide polymorphisms (-1722... BeFree 16893393 Detail
<0.001 Cytomegalovirus Infections Finally, finding of significant associations between CD28 +17 C/T and CTLA4 -166... BeFree 24057239 Detail
0.002 Acute GVH disease Finally, finding of significant associations between CD28 +17 C/T and CTLA4 -166... BeFree 24057239 Detail
<0.001 Thyroid associated opthalmopathies In this study, associations of five CTLA4 single nucleotide polymorphisms (-1722... BeFree 16893393 Detail
0.031 ulcerative colitis CTLA4 gene -1661A/G and long 3' untranslated region (AT)n repeat polymorphisms a... BeFree 20445568 Detail
0.228 Graves Disease In this study, associations of five CTLA4 single nucleotide polymorphisms (-1722... BeFree 16893393 Detail
0.248 Diabetes Mellitus, Insulin-Dependent Promoter region -318 C/ T and -1661 A/G CTLA-4 single nucleotide polymorphisms a... BeFree 16671945 Detail
Annotation

Annotations

DescrptionSourceLinks
Six autoimmune disease-related risk alleles of CTLA4 (rs1863800, rs733618, rs4553808, rs5742909, 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 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
In this study, associations of five CTLA4 single nucleotide polymorphisms (-1722A/G, -1661A/G, -318C... DisGeNET Detail
Finally, finding of significant associations between CD28 +17 C/T and CTLA4 -1661 A/G genotypes with... DisGeNET Detail
Finally, finding of significant associations between CD28 +17 C/T and CTLA4 -1661 A/G genotypes with... DisGeNET Detail
In this study, associations of five CTLA4 single nucleotide polymorphisms (-1722A/G, -1661A/G, -318C... DisGeNET Detail
CTLA4 gene -1661A/G and long 3' untranslated region (AT)n repeat polymorphisms are associated with U... DisGeNET Detail
In this study, associations of five CTLA4 single nucleotide polymorphisms (-1722A/G, -1661A/G, -318C... DisGeNET Detail
Promoter region -318 C/ T and -1661 A/G CTLA-4 single nucleotide polymorphisms and type 1 diabetes i... 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
rs4553808 dbSNP
Genome
hg19
Position
chr2:204,731,005-204,731,005
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs4553808
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1089
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1826
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
MMMP State (molecule) (MMMP)
polymorphism rs4553808
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