rs80358250, CFL2

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 7
CUI: C1853154
Disease: Nemaline Myopathy 7
2 0.925 0.080 14 34713462 missense variant C/T snv 0.800 1.000 3 2007 2012
Myopathies, Nemaline
CUI: C0206157
Disease: Myopathies, Nemaline
42 0.925 0.080 14 34713462 missense variant C/T snv 0.700 0