rs748922882, 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.
Myopathies, Nemaline
CUI: C0206157
Disease: Myopathies, Nemaline
42 0.925 0.080 2 151525265 stop gained G/C;T snv 8.0E-06 0.700 1.000 3 2002 2006
Nemaline Myopathy 2
CUI: C1850569
Disease: Nemaline Myopathy 2
265 0.925 0.080 2 151525265 stop gained G/C;T snv 8.0E-06 0.700 1.000 2 2002 2006