Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2383207
rs2383207
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.770 GeneticVariation BEFREE Genome-wide association studies have identified 2 single-nucleotide polymorphisms (SNPs) on chromosome arm 9p21, rs10757278, and rs2383207 that confer susceptibility to myocardial infarction. 23454037

2013

dbSNP: rs2383207
rs2383207
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.770 GeneticVariation BEFREE The CDKN2A/B locus (rs2383207, 9p21), identified initially as a susceptibility allele for MI and recently implicated in large vessel stroke, was associated with macroscopic infarct pathology in our autopsy cohort (OR = 1.26, p = 0.031). 24135527

2013

dbSNP: rs2383207
rs2383207
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.770 GeneticVariation BEFREE Subjects with the rs2383207 GG genotype had a 1.85-fold (P = 0.021) risk for MI when compared with the subjects with the AA genotype. 21415773

2011

dbSNP: rs2383207
rs2383207
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.770 GeneticVariation BEFREE Background Two single nucleotide polymorphisms (SNPs, rs10757278 and rs2383207) on chromosome 9p21 have been proved to be associated with myocardial infarction. 18459066

2009

dbSNP: rs2383207
rs2383207
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.770 GeneticVariation BEFREE We related SNPs rs2383207 and rs10757278 to stroke and to myocardial infarction and coronary revascularizations (coronary events) using crude and multivariate adjusted Cox proportional hazards models. 19293724

2009

dbSNP: rs2383207
rs2383207
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.770 GeneticVariation BEFREE Genome-wide single nucleotide polymorphism (SNP) association studies recently identified four SNPs (rs10757274, rs2383206, rs2383207, and rs10757278) on chromosome 9p21 that were associated with coronary artery disease (CAD) and myocardial infarction (MI) in Caucasian populations from northern Europe and North America. 18066490

2008

dbSNP: rs2383207
rs2383207
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.770 GeneticVariation BEFREE Recent genome-wide association studies have identified 4 SNPs on chromosome 9p21 associated with CAD (rs10757274 and rs2383206) and myocardial infarction (MI: rs2383207 and rs10757278) in White populations in Northern Europe and North America. 18048766

2008

dbSNP: rs2383207
rs2383207
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.100 GeneticVariation BEFREE Further subgroup analyses showed that rs1333040, rs1333049 and rs2383207 polymorphisms were significantly correlated with the risk of CAD in East Asians, rs2383206 and rs10757274 polymorphisms were significantly correlated with the risk of CAD in West Asians, while rs2383206, rs10757274 and rs10757278 polymorphisms were significantly correlated with the risk of CAD in Caucasians. 30814313

2019

dbSNP: rs2383207
rs2383207
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.100 GeneticVariation BEFREE Pooled overall analyses showed that rs1333040 (dominant model: P < 0.0001; recessive model: P < 0.0001; allele model: P < 0.0001), rs1333049 (dominant model: P = 0.02; allele model: P = 0.02) and rs2383207 (additive model: P = 0.004; allele model: P = 0.03) polymorphisms were significantly associated with the likelihood of CAD. 30387168

2019

dbSNP: rs2383207
rs2383207
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.100 GeneticVariation BEFREE The polymorphic variants of Apo-A5; rs2266788 (C), 9p21.3; rs1333049 (C) rs2383207 (A) are associated with CAD, its severity and exerts the risk of MI in North Indian population. 29309886

2018

dbSNP: rs2383207
rs2383207
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.100 GeneticVariation BEFREE In conclusion, this meta-analysis suggested that ANRIL rs2383207 polymorphism is associated with CAD risk. 27894414

2016

dbSNP: rs2383207
rs2383207
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.100 GeneticVariation BEFREE The risk allele G of rs2383207 was associated with severity of CAD estimated by the Gensini score (P = 3.6×10(-5) ). 27461153

2016

dbSNP: rs2383207
rs2383207
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.100 GeneticVariation BEFREE The rs2383207 and rs1333049 SNPs on 9p21 chromosome were significantly associated with the risk and severity of CAD in the Turkish population. 25333979

2015

dbSNP: rs2383207
rs2383207
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.100 GeneticVariation BEFREE We identified two 9p21.3-variants, rs4977574 (P < 4×10(-4)) and rs2383207 (P < 1.5×10(-3)) that were associated with severity of CAD in subjects without T2D. 23343465

2013

dbSNP: rs2383207
rs2383207
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.100 GeneticVariation BEFREE Further, we evaluated nine additional SNPs, of which two SNPs flanking rs2383207 (rs1537375 [p = 2.4 × 10(-5)] and rs1537374 [p = 5.6 × 10(-5)]) were also strongly associated with CAD. 20858033

2011

dbSNP: rs2383207
rs2383207
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.100 GeneticVariation BEFREE Conclusions The rs10757278 and rs2383207 variants are determinants for early-onset coronary artery disease. 18459066

2009

dbSNP: rs2383207
rs2383207
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.100 GeneticVariation BEFREE Genome-wide single nucleotide polymorphism (SNP) association studies recently identified four SNPs (rs10757274, rs2383206, rs2383207, and rs10757278) on chromosome 9p21 that were associated with coronary artery disease (CAD) and myocardial infarction (MI) in Caucasian populations from northern Europe and North America. 18066490

2008

dbSNP: rs2383207
rs2383207
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
0.040 GeneticVariation BEFREE There was no association between clinical severity and recurrence with variants rs2383207 (CDKN2B-AS1) for atherothrombotic IS and variants rs879324 (ZFHX3), rs966221 (PDE4D), and rs152312 (PDE4D) for cardioembolic IS. 31757599

2020

dbSNP: rs2383207
rs2383207
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.040 GeneticVariation BEFREE The association of polymorphic variants, rs2267788, rs1333049 and rs2383207 with coronary artery disease, its severity and presentation in North Indian population. 29309886

2018

dbSNP: rs2383207
rs2383207
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
0.040 GeneticVariation BEFREE The ANRIL variants rs2383207 and rs1333049 were significantly associated with the risk of IS among males but not females in the Chinese Han population. 29881905

2018

dbSNP: rs2383207
rs2383207
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
0.040 GeneticVariation BEFREE CDKN2A/CDKN2B SNP rs2383207 is independently associated with ischemic stroke in indigenous West African men. 28716248

2017

dbSNP: rs2383207
rs2383207
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.040 GeneticVariation BEFREE Some studies investigated the association of antisense non-coding RNA in the INK4 locus (ANRIL) rs2383207 polymorphism with coronary artery disease (CAD) risk. 27894414

2016

dbSNP: rs2383207
rs2383207
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
0.040 GeneticVariation BEFREE Chromosome 9p21 SNPs were also associated with risk of ischaemic stroke in African Americans (rs1333040, OR 0.65, P = 0.023; rs1333042, OR 0.55, P = 0.070; rs2383207, OR 0.55, P = 0.070). 22882272

2013

dbSNP: rs2383207
rs2383207
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.040 GeneticVariation BEFREE Conclusions The rs10757278 and rs2383207 variants are determinants for early-onset coronary artery disease. 18459066

2009

dbSNP: rs2383207
rs2383207
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.040 GeneticVariation BEFREE The SNP rs2383207 on chromosome 9p21 is significantly associated with CHD in Chinese. 18757290

2008