rs121964853, TPM3

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.
Congenital Fiber Type Disproportion
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
49 0.925 0.080 1 154176194 missense variant G/C;T snv 0.810 1.000 6 2008 2015
Nemaline myopathy 1
CUI: C1836448
Disease: Nemaline myopathy 1
10 0.925 0.080 1 154176194 missense variant G/C;T snv 0.700 1.000 4 2008 2015