rs786204430, 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 151684829 frameshift variant A/- del 7.0E-06 0.700 1.000 2 2006 2016
Nemaline Myopathy 2
CUI: C1850569
Disease: Nemaline Myopathy 2
265 0.925 0.080 2 151684829 frameshift variant A/- del 7.0E-06 0.700 1.000 1 2006 2006