Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs750900690
rs750900690
NEB ; RIF1
A 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs750900690
rs750900690
NEB ; RIF1
A 0.700 GeneticVariation CLINVAR Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. 16917880

2006
dbSNP: rs750900690
rs750900690
NEB ; RIF1
A 0.700 GeneticVariation CLINVAR Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin. 15336686

2004
dbSNP: rs750900690
rs750900690
NEB ; RIF1
A 0.700 GeneticVariation CLINVAR Nebulin mutations in autosomal recessive nemaline myopathy: an update. 12207938

2002