chr9:22115960:A>G Detail (hg38)

Information

Genome

Assembly Position
hg19 chr9:22,115,959-22,115,959 View the variant detail on this assembly version.
hg38 chr9:22,115,960-22,115,960

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.655
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
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Aortic Aneurysm, Abdominal Genome-wide association study identifies a sequence variant within the DAB2IP ge... GWASCAT 20622881 Detail
0.002 myocardial infarction Recent genome-wide association studies have identified 4 SNPs on chromosome 9p21... BeFree 18048766 Detail
<0.001 Cerebrovascular accident We found a modest increase in ischemic stroke risk for 2 common (minor allele fr... BeFree 20031580 Detail
<0.001 Ischemic Cerebrovascular Accident We found a modest increase in ischemic stroke risk for 2 common (minor allele fr... BeFree 20031580 Detail
<0.001 Ischemic stroke We found a modest increase in ischemic stroke risk for 2 common (minor allele fr... BeFree 20031580 Detail
Annotation

Annotations

DescrptionSourceLinks
Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring suscep... DisGeNET Detail
Recent genome-wide association studies have identified 4 SNPs on chromosome 9p21 associated with CAD... DisGeNET Detail
We found a modest increase in ischemic stroke risk for 2 common (minor allele frequencies 0.46 to 0.... DisGeNET Detail
We found a modest increase in ischemic stroke risk for 2 common (minor allele frequencies 0.46 to 0.... DisGeNET Detail
We found a modest increase in ischemic stroke risk for 2 common (minor allele frequencies 0.46 to 0.... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2383207 dbSNP
Genome
hg38
Position
chr9:22,115,960-22,115,960
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs2383207
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6545
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
10970
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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