Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs555445835
rs555445835
NEB ; RIF1
C 0.700 CausalMutation CLINVAR Nemaline myopathy type 2 (NEM2): two novel mutations in the nebulin (NEB) gene. 24056153

2015