Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1344099907
rs1344099907
NEB ; RIF1
TAACA 0.700 CausalMutation CLINVAR Epigenetic changes as a common trigger of muscle weakness in congenital myopathies. 26019235

2015
dbSNP: rs1344099907
rs1344099907
NEB ; RIF1
TAACA 0.700 CausalMutation CLINVAR Mutation update: the spectra of nebulin variants and associated myopathies. 25205138

2014