rs200449517, RIF1;NEB

N. diseases: 1
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 1.000 0.080 2 151519656 splice donor variant A/G snv 9.3E-05 9.1E-05 0.700 1.000 2 2014 2017