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.
MYOPATHY, MYOFIBRILLAR, 3
CUI: C3714934
Disease: MYOPATHY, MYOFIBRILLAR, 3
4 0.882 0.120 5 137870815 missense variant C/T snv 0.710 1.000 10 1996 2015
Distal amyotrophy
CUI: C1848736
Disease: Distal amyotrophy
7 0.882 0.120 5 137870815 missense variant C/T snv 0.700 0
Distal lower limb muscle weakness
CUI: C1836450
Disease: Distal lower limb muscle weakness
11 0.882 0.120 5 137870815 missense variant C/T snv 0.700 0
EMG: myopathic abnormalities
CUI: C4021726
Disease: EMG: myopathic abnormalities
16 0.882 0.120 5 137870815 missense variant C/T snv 0.700 0
Fatty replacement of skeletal muscle
CUI: C4021082
Disease: Fatty replacement of skeletal muscle
4 0.882 0.120 5 137870815 missense variant C/T snv 0.700 0
Foot dorsiflexor weakness
CUI: C1866141
Disease: Foot dorsiflexor weakness
4 0.882 0.120 5 137870815 missense variant C/T snv 0.700 0
Muscle fiber inclusion bodies
CUI: C4022159
Disease: Muscle fiber inclusion bodies
1 0.882 0.120 5 137870815 missense variant C/T snv 0.700 0
Pain in lower limb
CUI: C0023222
Disease: Pain in lower limb
2 0.882 0.120 5 137870815 missense variant C/T snv 0.700 0
Progressive distal muscle weakness
CUI: C1836609
Disease: Progressive distal muscle weakness
4 0.882 0.120 5 137870815 missense variant C/T snv 0.700 0
Progressive proximal muscle weakness
CUI: C1836156
Disease: Progressive proximal muscle weakness
3 0.882 0.120 5 137870815 missense variant C/T snv 0.700 0
Urinary bladder sphincter dysfunction
CUI: C1843663
Disease: Urinary bladder sphincter dysfunction
1 0.882 0.120 5 137870815 missense variant C/T snv 0.700 0
Distal Muscular Dystrophies
CUI: C0751336
Disease: Distal Muscular Dystrophies
18 0.882 0.120 5 137870815 missense variant C/T snv 0.010 1.000 1 2008 2008
Muscular Dystrophy
CUI: C0026850
Disease: Muscular Dystrophy
67 0.882 0.120 5 137870815 missense variant C/T snv 0.010 1.000 1 2006 2006