chr1:167442147:A>G Detail (hg38) (CD247)

Information

Genome

Assembly Position
hg19 chr1:167,411,384-167,411,384 View the variant detail on this assembly version.
hg38 chr1:167,442,147-167,442,147

HGVS

Type Transcript Protein
RefSeq NM_000734.3:c.59-1380T>C
NM_198053.2:c.59-1380T>C
Ensemble ENST00000362089.10:c.59-1380T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.188
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 186780 OMIM
HGNC 1677 HGNC
Ensembl ENSG00000198821 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv3660185 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
0.004 Autoimmune Diseases Given the role of CD247 in the response of the T cells, its entailment in autoim... BeFree 23861880 Detail
0.123 celiac disease [Multiple common variants for celiac disease influencing immune gene expression.... GAD 20190752 Detail
0.123 celiac disease Multiple common variants for celiac disease influencing immune gene expression. GWASCAT 20190752 Detail
0.004 Autoimmune Diseases [Meta-analysis of genome-wide association studies in celiac disease and rheumato... GAD 21383967 Detail
Annotation

Annotations

DescrptionSourceLinks
Given the role of CD247 in the response of the T cells, its entailment in autoimmune diseases and in... DisGeNET Detail
[Multiple common variants for celiac disease influencing immune gene expression.] DisGeNET Detail
Multiple common variants for celiac disease influencing immune gene expression. DisGeNET Detail
[Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identif... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs864537 dbSNP
Genome
hg38
Position
chr1:167,442,147-167,442,147
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))
rs864537
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1879
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3150
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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