rs555445835, RIF1;NEB

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Nemaline Myopathy 2
CUI: C1850569
Disease: Nemaline Myopathy 2
265 0.925 0.080 2 151494212 frameshift variant AG/- del 8.3E-06 1.4E-05 0.700 1.000 2 2014 2015
Myopathies, Nemaline
CUI: C0206157
Disease: Myopathies, Nemaline
42 0.925 0.080 2 151494212 frameshift variant AG/- del 8.3E-06 1.4E-05 0.700 1.000 1 2015 2015