NPPA, natriuretic peptide A, 4878

N. diseases: 217; N. variants: 11
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5065
rs5065
Entrez Id: 1185;4878;100379251
Gene Symbol: CLCN6;NPPA;NPPA-AS1
CLCN6;NPPA;NPPA-AS1
CUI: C0948089
Disease:
Acute Coronary Syndrome
0.010 GeneticVariation BEFREE Three hundred ninety-three control subjects and 1,004 patients undergoing coronary angiography for suspected CAD (432 stable angina [SA], 572 acute coronary syndrome [ACS]) were genotyped for rs5065 ANP gene variant. 22575314 2012
dbSNP: rs13305986
rs13305986
Entrez Id: 4878
Gene Symbol: NPPA
NPPA
CUI: C0004096
Disease:
Asthma
0.010 GeneticVariation BEFREE Determine associations between asthma and four common SNPs on the NPPA gene: C/G (rs13305986) in the promoter; G/A (rs5063) in Exon 1 resulting in NPPAMet32-->Val substitution; T/C (rs5065) in Exon 3 resulting in an Arg152-->Ter substitution; and T/C in the 3'UT region (rs5067). 18294255 2008
dbSNP: rs5063
rs5063
Entrez Id: 1185;4878;100379251
Gene Symbol: CLCN6;NPPA;NPPA-AS1
CLCN6;NPPA;NPPA-AS1
CUI: C0004096
Disease:
Asthma
0.010 GeneticVariation BEFREE Determine associations between asthma and four common SNPs on the NPPA gene: C/G (rs13305986) in the promoter; G/A (rs5063) in Exon 1 resulting in NPPAMet32-->Val substitution; T/C (rs5065) in Exon 3 resulting in an Arg152-->Ter substitution; and T/C in the 3'UT region (rs5067). 18294255 2008
dbSNP: rs5065
rs5065
Entrez Id: 1185;4878;100379251
Gene Symbol: CLCN6;NPPA;NPPA-AS1
CLCN6;NPPA;NPPA-AS1
CUI: C0004096
Disease:
Asthma
0.010 GeneticVariation BEFREE The C allele of rs5065 was associated with asthma in the screening cohort but not in the replicate. 18294255 2008
dbSNP: rs5067
rs5067
Entrez Id: 1185;4878;100379251
Gene Symbol: CLCN6;NPPA;NPPA-AS1
CLCN6;NPPA;NPPA-AS1
CUI: C0004096
Disease:
Asthma
0.010 GeneticVariation BEFREE For rs5067, the risks of asthma in carriers of the C allele in the screening and replicate cohorts were reduced by 50% and 76%, respectively. 18294255 2008
dbSNP: rs5063
rs5063
Entrez Id: 1185;4878;100379251
Gene Symbol: CLCN6;NPPA;NPPA-AS1
CLCN6;NPPA;NPPA-AS1
CUI: C0004238
Disease:
Atrial Fibrillation
0.030 GeneticVariation BEFREE Carriers of rs5063 had lower NT-proANP levels (1427 versus 2291 pmol/L; P<0.001) and higher diastolic blood pressures (75 versus 73 mm Hg; P=0.009) and were at an increased risk of stroke when compared with wild-type subjects independent of age, sex, diabetes mellitus, hypertension, atrial fibrillation, and cholesterol levels (hazard ratio, 1.6; P=0.004). 25452597 2015
dbSNP: rs5063
rs5063
Entrez Id: 1185;4878;100379251
Gene Symbol: CLCN6;NPPA;NPPA-AS1
CLCN6;NPPA;NPPA-AS1
CUI: C0004238
Disease:
Atrial Fibrillation
0.030 GeneticVariation BEFREE Significant allelic association was detected between single nucleotide polymorphism (SNP) rs5063 and lone AF (p=0.015, OR=1.63; adjusted p=0.003). 20064500 2010
dbSNP: rs5063
rs5063
Entrez Id: 1185;4878;100379251
Gene Symbol: CLCN6;NPPA;NPPA-AS1
CLCN6;NPPA;NPPA-AS1
CUI: C0004238
Disease:
Atrial Fibrillation
0.030 GeneticVariation BEFREE Recently, the rs5063 SNP has been reported to confer an increased risk of AF development in a Chinese population. 20543198 2010
dbSNP: rs5065
rs5065
Entrez Id: 1185;4878;100379251
Gene Symbol: CLCN6;NPPA;NPPA-AS1
CLCN6;NPPA;NPPA-AS1
CUI: C0004238
Disease:
Atrial Fibrillation
0.010 GeneticVariation BEFREE Two common single nucleotide polymorphisms (SNPs) in NPPA, rs5063 and r</span>s5065, result in amino acid changes of the primary peptide and have been previously implicated in conditions associated with AF, including stroke and hypertension. 20543198 2010
dbSNP: rs61757261
rs61757261
Entrez Id: 1185;4878;100379251
Gene Symbol: CLCN6;NPPA;NPPA-AS1
CLCN6;NPPA;NPPA-AS1
CUI: C0004238
Disease:
Atrial Fibrillation
0.010 GeneticVariation BEFREE The prevalence of p.(Ser64Arg) mutation is low in the general population as is the prevalence of atrial fibrillation in mutation carriers (1/10). 26200358 2016
dbSNP: rs762638785
rs762638785
Entrez Id: 1185;4878;100379251
Gene Symbol: CLCN6;NPPA;NPPA-AS1
CLCN6;NPPA;NPPA-AS1
CUI: C0004238
Disease:
Atrial Fibrillation
0.010 GeneticVariation BEFREE These results suggest that <i>NPPA</i> variant p.Ile138Thr causes AF by activating TNF-α, NF-κB, and IL-1β signaling, inflammation, and fibrosis. 31034774 2019
dbSNP: rs587776851
rs587776851
Entrez Id: 1185;4878;100379251
Gene Symbol: CLCN6;NPPA;NPPA-AS1
CLCN6;NPPA;NPPA-AS1
CUI: C2677294
Disease:
Atrial Fibrillation, Familial, 6
C 0.700 CausalMutation CLINVAR
dbSNP: rs61757261
rs61757261
Entrez Id: 1185;4878;100379251
Gene Symbol: CLCN6;NPPA;NPPA-AS1
CLCN6;NPPA;NPPA-AS1
CUI: C2677294
Disease:
Atrial Fibrillation, Familial, 6
G 0.700 CausalMutation CLINVAR
dbSNP: rs202102042
rs202102042
Entrez Id: 1185;4878;100379251
Gene Symbol: CLCN6;NPPA;NPPA-AS1
CLCN6;NPPA;NPPA-AS1
CUI: C3810401
Disease:
ATRIAL STANDSTILL 2
T 0.800 CausalMutation CLINVAR
dbSNP: rs202102042
rs202102042
Entrez Id: 1185;4878;100379251
Gene Symbol: CLCN6;NPPA;NPPA-AS1
CLCN6;NPPA;NPPA-AS1
CUI: C3810401
Disease:
ATRIAL STANDSTILL 2
0.800 GeneticVariation UNIPROT
dbSNP: rs5065
rs5065
Entrez Id: 1185;4878;100379251
Gene Symbol: CLCN6;NPPA;NPPA-AS1
CLCN6;NPPA;NPPA-AS1
CUI: C1531624
Disease:
Cardioembolic stroke
0.010 GeneticVariation BEFREE However, in logistic analysis for Trial of Org 10172 in Acute Stroke Treatment (TOAST) classification of ischemic stroke, nonsynonymous rs5065 (STOP152Arg) and rs5067 in 3'UTR of NPPA, which were in complete linkage disequilibrium, showed significant associations with cardioembolic stroke. 22400494 2012
dbSNP: rs5067
rs5067
Entrez Id: 1185;4878;100379251
Gene Symbol: CLCN6;NPPA;NPPA-AS1
CLCN6;NPPA;NPPA-AS1
CUI: C1531624
Disease:
Cardioembolic stroke
0.010 GeneticVariation BEFREE However, in logistic analysis for Trial of Org 10172 in Acute Stroke Treatment (TOAST) classification of ischemic stroke, nonsynonymous rs5065 (STOP152Arg) and rs5067 in 3'UTR of NPPA, which were in complete linkage disequilibrium, showed significant associations with cardioembolic stroke. 22400494 2012
dbSNP: rs5065
rs5065
Entrez Id: 1185;4878;100379251
Gene Symbol: CLCN6;NPPA;NPPA-AS1
CLCN6;NPPA;NPPA-AS1
CUI: C0007222
Disease:
Cardiovascular Diseases
0.010 GeneticVariation BEFREE Atrial natriuretic peptide genetic variant rs5065 and risk for cardiovascular disease in the general community: a 9-year follow-up study. 24041948 2013
dbSNP: rs5063
rs5063
Entrez Id: 1185;4878;100379251
Gene Symbol: CLCN6;NPPA;NPPA-AS1
CLCN6;NPPA;NPPA-AS1
CUI: C0038454
Disease:
Cerebrovascular accident
0.010 GeneticVariation BEFREE Carriers of rs5063 had lower NT-proANP levels (1427 versus 2291 pmol/L; P<0.001) and higher diastolic blood pressures (75 versus 73 mm Hg; P=0.009) and were at an increased risk of stroke when compared with wild-type subjects independent of age, sex, diabetes mellitus, hypertension, atrial fibrillation, and cholesterol levels (hazard ratio, 1.6; P=0.004). 25452597 2015
dbSNP: rs5065
rs5065
Entrez Id: 1185;4878;100379251
Gene Symbol: CLCN6;NPPA;NPPA-AS1
CLCN6;NPPA;NPPA-AS1
CUI: C0038454
Disease:
Cerebrovascular accident
0.010 GeneticVariation BEFREE Two common single nucleotide polymorphisms (SNPs) in NPPA, rs5063 and rs5065, result in amino acid changes of the primary peptide and have been previously implicated in conditions associated with AF, including stroke and hypertension. 20543198 2010
dbSNP: rs5068
rs5068
Entrez Id: 1185;4878;100379251
Gene Symbol: CLCN6;NPPA;NPPA-AS1
CLCN6;NPPA;NPPA-AS1
CUI: C0018802
Disease:
Congestive heart failure
0.010 GeneticVariation BEFREE There was no significant association between genotypes of rs198389, rs5068, and rs198358 and heart failure risk. 23315043 2013
dbSNP: rs5065
rs5065
Entrez Id: 1185;4878;100379251
Gene Symbol: CLCN6;NPPA;NPPA-AS1
CLCN6;NPPA;NPPA-AS1
CUI: C0010054
Disease:
Coronary Arteriosclerosis
0.020 GeneticVariation BEFREE Association between the atrial natriuretic peptide rs5065 gene polymorphism and the presence and severity of coronary artery disease in an Iranian population. 24487939 2014
dbSNP: rs5065
rs5065
Entrez Id: 1185;4878;100379251
Gene Symbol: CLCN6;NPPA;NPPA-AS1
CLCN6;NPPA;NPPA-AS1
CUI: C0010054
Disease:
Coronary Arteriosclerosis
0.020 GeneticVariation BEFREE Influence of rs5065 atrial natriuretic peptide gene variant on coronary artery disease. 22575314 2012
dbSNP: rs5063
rs5063
Entrez Id: 1185;4878;100379251
Gene Symbol: CLCN6;NPPA;NPPA-AS1
CLCN6;NPPA;NPPA-AS1
CUI: C0010054
Disease:
Coronary Arteriosclerosis
0.010 GeneticVariation BEFREE Natriuretic peptide Val7Met substitution and risk of coronary artery disease in Greek patients with familial hypercholesterolemia. 16721833 2006
dbSNP: rs5065
rs5065
Entrez Id: 1185;4878;100379251
Gene Symbol: CLCN6;NPPA;NPPA-AS1
CLCN6;NPPA;NPPA-AS1
CUI: C1956346
Disease:
Coronary Artery Disease
0.030 GeneticVariation BEFREE The ANP rs5065 (2238T>C) C allele seems to exert a protective effect against CAD in T2D patients of African descent. 22170009 2012