rs869025337, BVES

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CARDIAC ARRHYTHMIA WITH INCREASED SERUM CREATINE KINASE
CUI: C4225199
Disease: CARDIAC ARRHYTHMIA WITH INCREASED SERUM CREATINE KINASE
0.800 GeneticVariation UNIPROT
CARDIAC ARRHYTHMIA WITH INCREASED SERUM CREATINE KINASE
CUI: C4225199
Disease: CARDIAC ARRHYTHMIA WITH INCREASED SERUM CREATINE KINASE
0.800 CausalMutation CLINVAR
Cardiac Arrhythmia
CUI: C0003811
Disease: Cardiac Arrhythmia
0.010 GeneticVariation BEFREE POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking. 26642364 2016
Adverse Event Associated with Cardiac Arrhythmia
CUI: C1560249
Disease: Adverse Event Associated with Cardiac Arrhythmia
0.010 GeneticVariation BEFREE Here, we have described a homozygous missense variant (c.602C>T, p.S201F) in POPDC1, identified by whole-exome sequencing, in a family of 4 with cardiac arrhythmia and limb-girdle muscular dystrophy (LGMD). 26642364 2016
Muscular Dystrophy
CUI: C0026850
Disease: Muscular Dystrophy
0.010 GeneticVariation BEFREE POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking. 26642364 2016
Muscular Dystrophies, Limb-Girdle
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
0.010 GeneticVariation BEFREE Here, we have described a homozygous missense variant (c.602C>T, p.S201F) in POPDC1, identified by whole-exome sequencing, in a family of 4 with cardiac arrhythmia and limb-girdle muscular dystrophy (LGMD). 26642364 2016