rs104894129, TPM2

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.
ARTHROGRYPOSIS, DISTAL, TYPE 1
CUI: C0220662
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 1
10 0.851 0.120 9 35685672 missense variant C/T snv 0.800 1.000 7 2002 2014
Congenital Fiber Type Disproportion
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
49 0.851 0.120 9 35685672 missense variant C/T snv 0.700 0
Nemaline myopathy 4
CUI: C1836447
Disease: Nemaline myopathy 4
9 0.851 0.120 9 35685672 missense variant C/T snv 0.700 0
Myopathies, Nemaline
CUI: C0206157
Disease: Myopathies, Nemaline
42 0.851 0.120 9 35685672 missense variant C/T snv 0.010 1.000 1 2013 2013