Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs760200697
rs760200697
NEB ; RIF1
C 0.700 CausalMutation CLINVAR Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 25356970

2015
dbSNP: rs760200697
rs760200697
NEB ; RIF1
C 0.700 CausalMutation CLINVAR Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. 16917880

2006
dbSNP: rs760200697
rs760200697
NEB ; RIF1
C 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin. 15336686

2004
dbSNP: rs760200697
rs760200697
NEB ; RIF1
C 0.700 CausalMutation CLINVAR Nebulin mutations in autosomal recessive nemaline myopathy: an update. 12207938

2002