rs121434589, MYH2;MYHAS

N. diseases: 8
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.
INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT
CUI: C1854106
Disease: INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT
21 0.851 0.200 17 10535137 missense variant C/T snv 0.800 1.000 2 2000 2014
Myopathy
CUI: C0026848
Disease: Myopathy
166 0.851 0.200 17 10535137 missense variant C/T snv 0.020 1.000 2 2000 2006
Arthrogryposis
CUI: C0003886
Disease: Arthrogryposis
33 0.851 0.200 17 10535137 missense variant C/T snv 0.010 1.000 1 2015 2015
Inclusion body myopathy, autosomal dominant
CUI: C2931820
Disease: Inclusion body myopathy, autosomal dominant
1 0.851 0.200 17 10535137 missense variant C/T snv 0.010 1.000 1 2012 2012
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
87 0.851 0.200 17 10535137 missense variant C/T snv 0.010 1.000 1 2006 2006
Ophthalmoplegia
CUI: C0029089
Disease: Ophthalmoplegia
12 0.851 0.200 17 10535137 missense variant C/T snv 0.010 1.000 1 2015 2015
Paresis
CUI: C0030552
Disease: Paresis
49 0.851 0.200 17 10535137 missense variant C/T snv 0.010 1.000 1 2006 2006
Proximal myopathy
CUI: C0410198
Disease: Proximal myopathy
4 0.851 0.200 17 10535137 missense variant C/T snv 0.010 1.000 1 2015 2015