chr9:22115027:A>G Detail (hg38)

Information

Genome

Assembly Position
hg19 chr9:22,115,026-22,115,026 View the variant detail on this assembly version.
hg38 chr9:22,115,027-22,115,027

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.472
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
0.007 coronary artery disease We investigated whether the coronary artery disease (CAD) locus on chromosome 9p... BeFree 22622453 Detail
0.017 Diabetes Mellitus, Non-Insulin-Dependent We investigated whether the coronary artery disease (CAD) locus on chromosome 9p... BeFree 22622453 Detail
0.002 myocardial infarction Recent genome-wide association studies have identified 4 SNPs on chromosome 9p21... BeFree 18048766 Detail
<0.001 Ischemic Cerebrovascular Accident In a hospital based case control study, we investigated the association of cycli... BeFree 19559344 Detail
<0.001 Ischemic stroke In a hospital based case control study, we investigated the association of cycli... BeFree 19559344 Detail
<0.001 Coronary heart disease Using the combined TDT/S-TDT test, the 3 single nucleotide polymorphisms (SNP), ... BeFree 18957718 Detail
<0.001 Ischemic stroke In a hospital based case control study, we investigated the association of cycli... BeFree 19559344 Detail
<0.001 Ischemic stroke In a hospital based case control study, we investigated the association of cycli... BeFree 19559344 Detail
<0.001 Ischemic Cerebrovascular Accident In a hospital based case control study, we investigated the association of cycli... BeFree 19559344 Detail
<0.001 Ischemic Cerebrovascular Accident In a hospital based case control study, we investigated the association of cycli... BeFree 19559344 Detail
Annotation

Annotations

DescrptionSourceLinks
We investigated whether the coronary artery disease (CAD) locus on chromosome 9p21 (as represented b... DisGeNET Detail
We investigated whether the coronary artery disease (CAD) locus on chromosome 9p21 (as represented b... DisGeNET Detail
Recent genome-wide association studies have identified 4 SNPs on chromosome 9p21 associated with CAD... DisGeNET Detail
In a hospital based case control study, we investigated the association of cyclin-dependent kinase i... DisGeNET Detail
In a hospital based case control study, we investigated the association of cyclin-dependent kinase i... DisGeNET Detail
Using the combined TDT/S-TDT test, the 3 single nucleotide polymorphisms (SNP), rs10757274, rs238320... DisGeNET Detail
In a hospital based case control study, we investigated the association of cyclin-dependent kinase i... DisGeNET Detail
In a hospital based case control study, we investigated the association of cyclin-dependent kinase i... DisGeNET Detail
In a hospital based case control study, we investigated the association of cyclin-dependent kinase i... DisGeNET Detail
In a hospital based case control study, we investigated the association of cyclin-dependent kinase i... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2383206 dbSNP
Genome
hg38
Position
chr9:22,115,027-22,115,027
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))
rs2383206
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4719
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7909
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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