Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1458048713
rs1458048713
NEB ; RIF1
T 0.700 CausalMutation CLINVAR One in seven colorectal cancer patients is under 50, US study shows. 26809612

2016
dbSNP: rs1458048713
rs1458048713
NEB ; RIF1
T 0.700 CausalMutation CLINVAR Mutation update: the spectra of nebulin variants and associated myopathies. 25205138

2014