rs549794342, NEB;RIF1

N. diseases: 4
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.
Muscular Dystrophy
CUI: C0026850
Disease: Muscular Dystrophy
67 0.925 0.120 2 151501423 stop gained G/A snv 2.7E-04 3.0E-04 0.700 0
Nemaline Myopathy 2
CUI: C1850569
Disease: Nemaline Myopathy 2
265 0.925 0.120 2 151501423 stop gained G/A snv 2.7E-04 3.0E-04 0.700 0
Pain in limb
CUI: C0030196
Disease: Pain in limb
5 0.925 0.120 2 151501423 stop gained G/A snv 2.7E-04 3.0E-04 0.700 0
Progressive proximal muscle weakness
CUI: C1836156
Disease: Progressive proximal muscle weakness
3 0.925 0.120 2 151501423 stop gained G/A snv 2.7E-04 3.0E-04 0.700 0