chr9:22098574:A>G Detail (hg19) (CDKN2B-AS1)

Information

Genome

Assembly Position
hg19 chr9:22,098,574-22,098,574
hg38 chr9:22,098,575-22,098,575 View the variant detail on this assembly version.

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.468
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance risk factor
Review star
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor no assertion criteria provided Three Vessel Coronary Disease somatic Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.253 coronary artery disease Besides the CAD/MI SNP at 9p21 (rs4977574, P = 3.1 × 10(-10)), two additional lo... BeFree 23561647 Detail
0.246 coronary artery disease Besides the CAD/MI SNP at 9p21 (rs4977574, P = 3.1 × 10(-10)), two additional lo... BeFree 23561647 Detail
0.001 Coronary Arteriosclerosis Association of CDKN2BAS polymorphism rs4977574 with coronary heart disease: a ca... BeFree 25268619 Detail
0.125 Coronary heart disease Association of CDKN2BAS polymorphism rs4977574 with coronary heart disease: a ca... BeFree 25268619 Detail
0.125 Coronary heart disease Large-scale association analysis identifies 13 new susceptibility loci for coron... GWASCAT 21378990 Detail
0.125 Coronary heart disease A genome-wide association study in Europeans and South Asians identifies five ne... GWASCAT 21378988 Detail
0.120 myocardial infarction Genome-wide association of early-onset myocardial infarction with single nucleot... GWASCAT 19198609 Detail
0.125 coronary artery disease CAD association was replicated for three GWAS-identified loci (1p13.3/SORT1 (rs5... BeFree 23364394 Detail
0.122 coronary artery disease Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and asso... GWASCAT 21239051 Detail
0.126 Coronary heart disease Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1... BeFree 22152955 Detail
0.025 Coronary heart disease Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1... BeFree 22152955 Detail
0.004 Coronary heart disease Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1... BeFree 22152955 Detail
0.128 Coronary heart disease Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1... BeFree 22152955 Detail
0.016 Coronary heart disease Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1... BeFree 22152955 Detail
0.127 Coronary heart disease Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1... BeFree 22152955 Detail
0.126 Coronary heart disease Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1... BeFree 22152955 Detail
Annotation

Annotations

DescrptionSourceLinks
NC_000009.12:g.22098575A>G AND Three Vessel Coronary Disease ClinVar Detail
Besides the CAD/MI SNP at 9p21 (rs4977574, P = 3.1 × 10(-10)), two additional loci at ADAMTS7 (rs382... DisGeNET Detail
Besides the CAD/MI SNP at 9p21 (rs4977574, P = 3.1 × 10(-10)), two additional loci at ADAMTS7 (rs382... DisGeNET Detail
Association of CDKN2BAS polymorphism rs4977574 with coronary heart disease: a case-control study and... DisGeNET Detail
Association of CDKN2BAS polymorphism rs4977574 with coronary heart disease: a case-control study and... DisGeNET Detail
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. DisGeNET Detail
A genome-wide association study in Europeans and South Asians identifies five new loci for coronary ... DisGeNET Detail
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms an... DisGeNET Detail
CAD association was replicated for three GWAS-identified loci (1p13.3/SORT1 (rs599839), 9p21.3/CDKN2... DisGeNET Detail
Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with ... DisGeNET Detail
Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1), rs646776 (CELSR2-... DisGeNET Detail
Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1), rs646776 (CELSR2-... DisGeNET Detail
Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1), rs646776 (CELSR2-... DisGeNET Detail
Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1), rs646776 (CELSR2-... DisGeNET Detail
Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1), rs646776 (CELSR2-... DisGeNET Detail
Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1), rs646776 (CELSR2-... DisGeNET Detail
Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1), rs646776 (CELSR2-... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs4977574 dbSNP
Genome
hg19
Position
chr9:22,098,574-22,098,574
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))
rs4977574
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4684
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7851
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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