rs755492182, ACTN2

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Left Ventricular Hypertrophy
CUI: C0149721
Disease: Left Ventricular Hypertrophy
0.010 GeneticVariation BEFREE We identified a rare c.740C>T (p.T247M) mutation in ACTN2, encoding α-actinin 2 in a HCM patient, who presented with left ventricular hypertrophy, outflow tract obstruction, and atrial fibrillation. 31680489 2019
Atrial Fibrillation
CUI: C0004238
Disease: Atrial Fibrillation
0.010 GeneticVariation BEFREE We identified a rare c.740C>T (p.T247M) mutation in ACTN2, encoding α-actinin 2 in a HCM patient, who presented with left ventricular hypertrophy, outflow tract obstruction, and atrial fibrillation. 31680489 2019
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
0.010 GeneticVariation BEFREE We identified a rare c.740C>T (p.T247M) mutation in ACTN2, encoding α-actinin 2 in a HCM patient, who presented with left ventricular hypertrophy, outflow tract obstruction, and atrial fibrillation. 31680489 2019