Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200889953
rs200889953
ALPK3
T 0.700 GeneticVariation CLINVAR ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy. 27106955

2016
dbSNP: rs200889953
rs200889953
ALPK3
T 0.700 GeneticVariation CLINVAR Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy. 26846950

2016
dbSNP: rs200889953
rs200889953
ALPK3
T 0.700 GeneticVariation CLINVAR Cardiomyopathy in α-kinase 3 (ALPK3)-deficient mice. 21441111

2012