rs191579691, 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 151561212 missense variant C/A;T snv 5.9E-05; 8.4E-06 0.700 1.000 5 2006 2016
Myopathies, Nemaline
CUI: C0206157
Disease: Myopathies, Nemaline
42 0.925 0.080 2 151561212 missense variant C/A;T snv 5.9E-05; 8.4E-06 0.700 1.000 4 2006 2016