chr9:124487495:C>T Detail (hg19) (DAB2IP)

Information

Genome

Assembly Position
hg19 chr9:124,487,495-124,487,495
hg38 chr9:121,725,216-121,725,216 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_032552.3:c.278+25758C>T
Ensemble ENST00000259371.7:c.278+25758C>T
ENST00000408936.8:c.362+25758C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.008
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 609205 OMIM
HGNC 17294 HGNC
Ensembl ENSG00000136848 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv37518073 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
<0.001 Peripheral Arterial Diseases However, 2 previously reported candidate genes for PAD and 1 SNP associated with... BeFree 22199011 Detail
0.019 Coronary Arteriosclerosis However, 2 previously reported candidate genes for PAD and 1 SNP associated with... BeFree 22199011 Detail
0.031 coronary artery disease However, 2 previously reported candidate genes for PAD and 1 SNP associated with... BeFree 22199011 Detail
0.027 Coronary heart disease However, 2 previously reported candidate genes for PAD and 1 SNP associated with... BeFree 22199011 Detail
0.167 Coronary heart disease However, 2 previously reported candidate genes for PAD and 1 SNP associated with... BeFree 22199011 Detail
0.148 coronary artery disease However, 2 previously reported candidate genes for PAD and 1 SNP associated with... BeFree 22199011 Detail
0.028 Coronary Arteriosclerosis However, 2 previously reported candidate genes for PAD and 1 SNP associated with... BeFree 22199011 Detail
<0.001 Peripheral Arterial Diseases However, 2 previously reported candidate genes for PAD and 1 SNP associated with... BeFree 22199011 Detail
Annotation

Annotations

DescrptionSourceLinks
However, 2 previously reported candidate genes for PAD and 1 SNP associated with coronary artery dis... DisGeNET Detail
However, 2 previously reported candidate genes for PAD and 1 SNP associated with coronary artery dis... DisGeNET Detail
However, 2 previously reported candidate genes for PAD and 1 SNP associated with coronary artery dis... DisGeNET Detail
However, 2 previously reported candidate genes for PAD and 1 SNP associated with coronary artery dis... DisGeNET Detail
However, 2 previously reported candidate genes for PAD and 1 SNP associated with coronary artery dis... DisGeNET Detail
However, 2 previously reported candidate genes for PAD and 1 SNP associated with coronary artery dis... DisGeNET Detail
However, 2 previously reported candidate genes for PAD and 1 SNP associated with coronary artery dis... DisGeNET Detail
However, 2 previously reported candidate genes for PAD and 1 SNP associated with coronary artery dis... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs13290547 dbSNP
Genome
hg19
Position
chr9:124,487,495-124,487,495
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))
rs13290547
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0078
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
131
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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