Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912496
rs121912496
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 GeneticVariation UNIPROT Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population. 27234031

2017

dbSNP: rs121912496
rs121912496
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 GeneticVariation UNIPROT Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing. 22431096

2012

dbSNP: rs121912496
rs121912496
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
T 0.800 CausalMutation CLINVAR Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations. 20848652

2011

dbSNP: rs121912496
rs121912496
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
T 0.800 CausalMutation CLINVAR "Two children with ""dropped head"" syndrome due to lamin A/C mutations." 20886652

2010

dbSNP: rs121912496
rs121912496
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
T 0.800 CausalMutation CLINVAR De novo LMNA mutations cause a new form of congenital muscular dystrophy. 18551513

2008