chr9:22125503:G>C Detail (hg19) (CDKN2B-AS1)

Information

Genome

Assembly Position
hg19 chr9:22,125,503-22,125,503
hg38 chr9:22,125,504-22,125,504 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:0.486
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
<0.001 arteriosclerosis The present study attempted to replicate the results for eight of these loci, CD... BeFree 24573017 Detail
<0.001 arteriosclerosis The present study attempted to replicate the results for eight of these loci, CD... BeFree 24573017 Detail
0.001 arteriosclerosis The present study attempted to replicate the results for eight of these loci, CD... BeFree 24573017 Detail
0.003 atherosclerosis The present study attempted to replicate the results for eight of these loci, CD... BeFree 24573017 Detail
<0.001 atherosclerosis The present study attempted to replicate the results for eight of these loci, CD... BeFree 24573017 Detail
<0.001 atherosclerosis The present study attempted to replicate the results for eight of these loci, CD... BeFree 24573017 Detail
<0.001 arteriosclerosis The present study attempted to replicate the results for eight of these loci, CD... BeFree 24573017 Detail
<0.001 atherosclerosis The present study attempted to replicate the results for eight of these loci, CD... BeFree 24573017 Detail
0.008 coronary artery disease No significant differences were observed between genotypes of rs1333049 in serum... BeFree 21362310 Detail
0.071 Dementia, Vascular After adjustment for the APOE ε4 carrier status and other vascular risk factors,... BeFree 19664850 Detail
0.016 Coronary heart disease [Genome-wide association study of 14,000 cases of seven common diseases and 3,00... GAD 17554300 Detail
0.016 Coronary heart disease [Genome-wide association study of 14,000 cases of seven common diseases and 3,00... GAD 17554300 Detail
<0.001 Coronary heart disease The results showed that 3 SNPs in whites (rs599839, rs1333049, and rs501120; HRR... BeFree 19955471 Detail
0.001 Coronary Arteriosclerosis A replication study and a meta-analysis of the association between the CDKN2A rs... BeFree 24930384 Detail
0.016 Coronary heart disease A replication study and a meta-analysis of the association between the CDKN2A rs... BeFree 24930384 Detail
<0.001 Coronary heart disease The results showed that 3 SNPs in whites (rs599839, rs1333049, and rs501120; HRR... BeFree 19955471 Detail
0.090 Diabetes Mellitus, Non-Insulin-Dependent The majority of the potentially novel results were for single PheWAS phenotype-c... BeFree 23382687 Detail
<0.001 Coronary heart disease To address the relationship of rs1333049, the 9p21 variant showing the strongest... BeFree 22436605 Detail
0.024 Vascular Diseases Altogether, our data indicate for the first time that the C allele of rs1333049 ... BeFree 19664850 Detail
<0.001 Coronary heart disease The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757... BeFree 21804106 Detail
0.007 Coronary heart disease The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757... BeFree 21804106 Detail
0.123 Coronary heart disease The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757... BeFree 21804106 Detail
<0.001 Coronary heart disease Using the combined TDT/S-TDT test, the 3 single nucleotide polymorphisms (SNP), ... BeFree 18957718 Detail
0.123 Coronary heart disease The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757... BeFree 21804106 Detail
0.126 Coronary heart disease The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757... BeFree 21804106 Detail
0.005 Coronary heart disease The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757... BeFree 21804106 Detail
Annotation

Annotations

DescrptionSourceLinks
NC_000009.12:g.22125504G>C AND Three Vessel Coronary Disease ClinVar Detail
The present study attempted to replicate the results for eight of these loci, CDKN2A/B(rs1333049), A... DisGeNET Detail
The present study attempted to replicate the results for eight of these loci, CDKN2A/B(rs1333049), A... DisGeNET Detail
The present study attempted to replicate the results for eight of these loci, CDKN2A/B(rs1333049), A... DisGeNET Detail
The present study attempted to replicate the results for eight of these loci, CDKN2A/B(rs1333049), A... DisGeNET Detail
The present study attempted to replicate the results for eight of these loci, CDKN2A/B(rs1333049), A... DisGeNET Detail
The present study attempted to replicate the results for eight of these loci, CDKN2A/B(rs1333049), A... DisGeNET Detail
The present study attempted to replicate the results for eight of these loci, CDKN2A/B(rs1333049), A... DisGeNET Detail
The present study attempted to replicate the results for eight of these loci, CDKN2A/B(rs1333049), A... DisGeNET Detail
No significant differences were observed between genotypes of rs1333049 in serum levels of glucose, ... DisGeNET Detail
After adjustment for the APOE ε4 carrier status and other vascular risk factors, the C allele of rs1... DisGeNET Detail
[Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.] DisGeNET Detail
[Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.] DisGeNET Detail
The results showed that 3 SNPs in whites (rs599839, rs1333049, and rs501120; HRRs were 1.10 (P = 0.0... DisGeNET Detail
A replication study and a meta-analysis of the association between the CDKN2A rs1333049 polymorphism... DisGeNET Detail
A replication study and a meta-analysis of the association between the CDKN2A rs1333049 polymorphism... DisGeNET Detail
The results showed that 3 SNPs in whites (rs599839, rs1333049, and rs501120; HRRs were 1.10 (P = 0.0... DisGeNET Detail
The majority of the potentially novel results were for single PheWAS phenotype-classes, for example,... DisGeNET Detail
To address the relationship of rs1333049, the 9p21 variant showing the strongest association with co... DisGeNET Detail
Altogether, our data indicate for the first time that the C allele of rs1333049 in the vascular dise... DisGeNET Detail
The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757274 (OR 1.17; 1.09-1... DisGeNET Detail
The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757274 (OR 1.17; 1.09-1... DisGeNET Detail
The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757274 (OR 1.17; 1.09-1... DisGeNET Detail
Using the combined TDT/S-TDT test, the 3 single nucleotide polymorphisms (SNP), rs10757274, rs238320... DisGeNET Detail
The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757274 (OR 1.17; 1.09-1... DisGeNET Detail
The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757274 (OR 1.17; 1.09-1... DisGeNET Detail
The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757274 (OR 1.17; 1.09-1... DisGeNET Detail
Gene
-
dbSNP
rs1333049 dbSNP
Genome
hg19
Position
chr9:22,125,503-22,125,503
Variant Type
snv
Reference Allele
G
Alternative Allele
C
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))
rs1333049
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4865
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8154
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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