chr7:128977412:A>G Detail (hg38) (TNPO3)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr7:128,617,466-128,617,466 View the variant detail on this assembly version.
hg38	chr7:128,977,412-128,977,412

HGVS

TNPO3

Type	Transcript	Protein
RefSeq	NM_012470.3:c.2062-1477T>C
	NM_001191028.2:c.1870-1477T>C
	NR_034053.2:c.1864-1477T>C
Ensemble	ENST00000265388.10:c.2062-1477T>C
	ENST00000471166.1:c.2164-1477T>C
	ENST00000471234.5:c.1870-1477T>C
	ENST00000482320.5:c.1864-1477T>C
	ENST00000627585.2:c.2164-1477T>C

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

TNPO3

Type	Database	ID	Link
Gene	MIM	610032	OMIM
	HGNC	17103	HGNC
	Ensembl	ENSG00000064419	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv352272005	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
0.009	Biliary cirrhosis	[Genome-wide association study identifies 12 new susceptibility loci for primary...	GAD	21399635	Detail
0.241	Primary biliary cirrhosis	Genome-wide association study identifies 12 new susceptibility loci for primary ...	GWASCAT	21399635	Detail
0.130	Lupus Erythematosus, Systemic	In the non-HLA region, meta-analysis identified 6 SNPs associated with SLE with ...	GWASCAT	23053960	Detail
0.130	Lupus Erythematosus, Systemic	Differential genetic associations for systemic lupus erythematosus based on anti...	GWASCAT	21408207	Detail
0.130	Lupus Erythematosus, Systemic	[Differential genetic associations for systemic lupus erythematosus based on ant...	GAD	21408207	Detail
0.130	Lupus Erythematosus, Systemic	[We identified and then confirmed through replication two new genetic loci for S...	GAD	18204098	Detail

Annotation

Annotations

Descrption	Source	Links
[Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.]	DisGeNET	Detail
Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.	DisGeNET	Detail
In the non-HLA region, meta-analysis identified 6 SNPs associated with SLE with genome-wide signific...	DisGeNET	Detail
Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody ...	DisGeNET	Detail
[Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody...	DisGeNET	Detail
[We identified and then confirmed through replication two new genetic loci for SLE: a promoter-regio...	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs12531711 dbSNP
Genome: hg38
Position: chr7:128,977,412-128,977,412
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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