chr7:128617466:A>C Detail (hg19) (TNPO3)

Information

Genome

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

HGVS

Type Transcript Protein
RefSeq NM_012470.3:c.2062-1477T>G
NM_001191028.2:c.1870-1477T>G
NR_034053.2:c.1864-1477T>G
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
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
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

DescrptionSourceLinks
[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
hg19
Position
chr7:128,617,466-128,617,466
Variant Type
snv
Reference Allele
A
Alternative Allele
C
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