rs200449517, RIF1;NEB

N. diseases: 1
Disease: Nemaline Myopathy 2 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Nemaline Myopathy 2
CUI: C1850569
Disease: Nemaline Myopathy 2
0.700 GeneticVariation CLINVAR Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration. 28132693 2017
Nemaline Myopathy 2
CUI: C1850569
Disease: Nemaline Myopathy 2
0.700 GeneticVariation CLINVAR Mutation update: the spectra of nebulin variants and associated myopathies. 25205138 2014