Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs34376731
rs34376731
Entrez Id: 5502
Gene Symbol: PPP1R1A
PPP1R1A
CUI: C0018802
Disease:
Congestive heart failure
0.020 GeneticVariation BEFREE The present findings indicate that the human inhibitor-1 G147D polymorphism, found almost exclusively in blacks, may act as a modifier rather than risk factor in heart failure development. 18698139 2009
dbSNP: rs34376731
rs34376731
Entrez Id: 5502
Gene Symbol: PPP1R1A
PPP1R1A
CUI: C0018801
Disease:
Heart failure
0.020 GeneticVariation BEFREE The present findings indicate that the human inhibitor-1 G147D polymorphism, found almost exclusively in blacks, may act as a modifier rather than risk factor in heart failure development. 18698139 2009
dbSNP: rs34376731
rs34376731
Entrez Id: 5502
Gene Symbol: PPP1R1A
PPP1R1A
CUI: C0018802
Disease:
Congestive heart failure
0.020 GeneticVariation BEFREE These findings suggest that the human G147D PPI-1 can attenuate responses of cardiomyocytes to beta-adrenergic agonists by decreasing PLN phosphorylation and therefore may contribute to deteriorated function in heart failure. 18192322 2008
dbSNP: rs34376731
rs34376731
Entrez Id: 5502
Gene Symbol: PPP1R1A
PPP1R1A
CUI: C0018801
Disease:
Heart failure
0.020 GeneticVariation BEFREE These findings suggest that the human G147D PPI-1 can attenuate responses of cardiomyocytes to beta-adrenergic agonists by decreasing PLN phosphorylation and therefore may contribute to deteriorated function in heart failure. 18192322 2008
dbSNP: rs1318306893
rs1318306893
Entrez Id: 5502
Gene Symbol: PPP1R1A
PPP1R1A
CUI: C0030567
Disease:
Parkinson Disease
0.010 GeneticVariation BEFREE Mitochondrial division inhibitor-1 is neuroprotective in the A53T-α-synuclein rat model of Parkinson's disease. 28790323 2017
dbSNP: rs1249958
rs1249958
Entrez Id: 5502
Gene Symbol: PPP1R1A
PPP1R1A
CUI: C0003811
Disease:
Cardiac Arrhythmia
0.010 GeneticVariation BEFREE Human G109E-inhibitor-1 impairs cardiac function and promotes arrhythmias. 26455482 2015
dbSNP: rs1249958
rs1249958
Entrez Id: 5502
Gene Symbol: PPP1R1A
PPP1R1A
CUI: C0018802
Disease:
Congestive heart failure
0.010 GeneticVariation BEFREE These findings suggest that the human G109E inhibitor-1 variant impairs SR Ca-cycling and promotes arrhythmogenesis under stress conditions, which may present an additional insult in the compromised function of heart failure carriers. 26455482 2015
dbSNP: rs1249958
rs1249958
Entrez Id: 5502
Gene Symbol: PPP1R1A
PPP1R1A
CUI: C0018801
Disease:
Heart failure
0.010 GeneticVariation BEFREE These findings suggest that the human G109E inhibitor-1 variant impairs SR Ca-cycling and promotes arrhythmogenesis under stress conditions, which may present an additional insult in the compromised function of heart failure carriers. 26455482 2015