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

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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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

CD40

Type	Transcript	Protein
RefSeq	NM_152854.3:c.51+1066C>A
	NM_001250.5:c.51+1066C>A
	NM_001302753.1:c.51+1066C>A
	NM_001322421.1:c.51+1066C>A
	NM_001322422.1:c.51+1066C>A
	NR_136327.1:c.51+1066C>A
Ensemble	ENST00000372276.7:c.51+1066C>A
	ENST00000372285.8:c.51+1066C>A
	ENST00000695671.1:c.51+1066C>A

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

CD40

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
	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

Descrption	Source	Links
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: A

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