rs137853306, TPM2

N. diseases: 6
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 4
CUI: C1836447
Disease: Nemaline myopathy 4
9 0.882 0.080 9 35689265 missense variant C/T snv 0.800 1.000 3 2002 2014
Cap Myopathy
CUI: C3710589
Disease: Cap Myopathy
4 0.882 0.080 9 35689265 missense variant C/T snv 0.010 1.000 1 2018 2018
Congenital myopathy (disorder)
CUI: C0270960
Disease: Congenital myopathy (disorder)
10 0.882 0.080 9 35689265 missense variant C/T snv 0.010 1.000 1 2008 2008
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
87 0.882 0.080 9 35689265 missense variant C/T snv 0.010 1.000 1 2008 2008
Myopathies, Nemaline
CUI: C0206157
Disease: Myopathies, Nemaline
42 0.882 0.080 9 35689265 missense variant C/T snv 0.010 1.000 1 2018 2018
Paresis
CUI: C0030552
Disease: Paresis
49 0.882 0.080 9 35689265 missense variant C/T snv 0.010 1.000 1 2008 2008