rs80358247, TPM3

N. diseases: 3
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 1
CUI: C1836448
Disease: Nemaline myopathy 1
10 0.882 0.080 1 154191993 missense variant A/C snv 4.0E-06 0.800 1.000 4 1995 2014
Myopathies, Nemaline
CUI: C0206157
Disease: Myopathies, Nemaline
42 0.882 0.080 1 154191993 missense variant A/C snv 4.0E-06 0.710 1.000 1 2002 2002
Nemaline Myopathy, Autosomal Dominant
CUI: C0751656
Disease: Nemaline Myopathy, Autosomal Dominant
2 0.882 0.080 1 154191993 missense variant A/C snv 4.0E-06 0.010 1.000 1 2002 2002