rs121964852, TPM3

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.
Congenital Fiber Type Disproportion
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
49 0.851 0.080 1 154172971 missense variant C/T snv 0.810 1.000 4 2008 2014
Nemaline myopathy 1
CUI: C1836448
Disease: Nemaline myopathy 1
10 0.851 0.080 1 154172971 missense variant C/T snv 0.800 1.000 9 1995 2014
CAP MYOPATHY 1
CUI: C3714994
Disease: CAP MYOPATHY 1
2 0.851 0.080 1 154172971 missense variant C/T snv 0.700 0
Myopathies, Nemaline
CUI: C0206157
Disease: Myopathies, Nemaline
42 0.851 0.080 1 154172971 missense variant C/T snv 0.010 1.000 1 2008 2008