chr20:44748099:C>T Detail (hg19) (CD40)

Information

Genome

Assembly Position
hg19 chr20:44,748,099-44,748,099
hg38 chr20:46,119,460-46,119,460 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_152854.3:c.51+1066C>T
NM_001250.5:c.51+1066C>T
NM_001302753.1:c.51+1066C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.283
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 109535 OMIM
HGNC 11919 HGNC
Ensembl ENSG00000101017 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv63873086 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 arteriosclerosis Also, the CD40 rs1535045 gene variant may influence development of subclinical a... BeFree 23166616 Detail
0.006 rheumatoid arthritis One thousand five hundred and seventy-five patients fulfilling the 1987 ACR clas... BeFree 23166616 Detail
0.006 arteriosclerosis Although we did not observe a significant association of CD40-CD154 gene variant... BeFree 23166616 Detail
0.104 atherosclerosis Although we did not observe a significant association of CD40-CD154 gene variant... BeFree 23166616 Detail
0.092 atherosclerosis Also, the CD40 rs1535045 gene variant may influence development of subclinical a... BeFree 23166616 Detail
Annotation

Annotations

DescrptionSourceLinks
Also, the CD40 rs1535045 gene variant may influence development of subclinical atherosclerosis in RA... DisGeNET Detail
One thousand five hundred and seventy-five patients fulfilling the 1987 ACR classification criteria ... DisGeNET Detail
Although we did not observe a significant association of CD40-CD154 gene variants with the developme... DisGeNET Detail
Although we did not observe a significant association of CD40-CD154 gene variants with the developme... DisGeNET Detail
Also, the CD40 rs1535045 gene variant may influence development of subclinical atherosclerosis in RA... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1535045 dbSNP
Genome
hg19
Position
chr20:44,748,099-44,748,099
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs1535045
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2827
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4738
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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