rs199474714, 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.
Cap Myopathy
CUI: C3710589
Disease: Cap Myopathy
4 0.925 0.080 1 154173113 missense variant C/T snv 0.010 1.000 1 2018 2018
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
87 0.925 0.080 1 154173113 missense variant C/T snv 0.010 1.000 1 2019 2019
Myopathies, Nemaline
CUI: C0206157
Disease: Myopathies, Nemaline
42 0.925 0.080 1 154173113 missense variant C/T snv 0.010 1.000 1 2010 2010
Paresis
CUI: C0030552
Disease: Paresis
49 0.925 0.080 1 154173113 missense variant C/T snv 0.010 1.000 1 2019 2019