Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs57508089
rs57508089
LMNA
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		T 0.700 GeneticVariation CLINVAR Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction. 28798025

2017
dbSNP: rs57508089
rs57508089
LMNA
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		T 0.700 GeneticVariation CLINVAR Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing. 28679633

2017
dbSNP: rs57508089
rs57508089
LMNA
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		T 0.700 GeneticVariation CLINVAR Evaluation of damaging effects of splicing mutations: validation of an in vitro method for diagnostic laboratories. 24915601

2014
dbSNP: rs57508089
rs57508089
LMNA
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		T 0.700 GeneticVariation CLINVAR Phenotypic clustering of lamin A/C mutations in neuromuscular patients. 17377071

2007