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.
Limb-girdle muscular dystrophy type 2A
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
146 0.827 0.120 15 42387803 frameshift variant A/- delins 0.700 1.000 15 1995 2016
Absent muscle fiber calpain-3
CUI: C4022625
Disease: Absent muscle fiber calpain-3
2 0.827 0.120 15 42387803 frameshift variant A/- delins 0.700 0
Calf muscle hypertrophy
CUI: C1843057
Disease: Calf muscle hypertrophy
5 0.827 0.120 15 42387803 frameshift variant A/- delins 0.700 0
Congenital muscular dystrophy (disorder)
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
20 0.827 0.120 15 42387803 frameshift variant A/- delins 0.700 0
Contractures of the joints of the lower limbs
CUI: C1859523
Disease: Contractures of the joints of the lower limbs
3 0.827 0.120 15 42387803 frameshift variant A/- delins 0.700 0
Creatine phosphokinase serum increased
CUI: C0241005
Disease: Creatine phosphokinase serum increased
43 0.827 0.120 15 42387803 frameshift variant A/- delins 0.700 0
Difficulty walking
CUI: C0311394
Disease: Difficulty walking
30 0.827 0.120 15 42387803 frameshift variant A/- delins 0.700 0
Electrocardiogram change
CUI: C0855329
Disease: Electrocardiogram change
27 0.827 0.120 15 42387803 frameshift variant A/- delins 0.700 0
EMG: myopathic abnormalities
CUI: C4021726
Disease: EMG: myopathic abnormalities
16 0.827 0.120 15 42387803 frameshift variant A/- delins 0.700 0
EMG: neuropathic changes
CUI: C4021727
Disease: EMG: neuropathic changes
5 0.827 0.120 15 42387803 frameshift variant A/- delins 0.700 0
Flexion contracture - elbow
CUI: C0409338
Disease: Flexion contracture - elbow
14 0.827 0.120 15 42387803 frameshift variant A/- delins 0.700 0
Limb-girdle muscle weakness
CUI: C1858127
Disease: Limb-girdle muscle weakness
3 0.827 0.120 15 42387803 frameshift variant A/- delins 0.700 0
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
CUI: C3887485
Disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
19 0.827 0.120 15 42387803 frameshift variant A/- delins 0.700 0
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
87 0.827 0.120 15 42387803 frameshift variant A/- delins 0.700 0
Muscular Dystrophy
CUI: C0026850
Disease: Muscular Dystrophy
67 0.827 0.120 15 42387803 frameshift variant A/- delins 0.700 0
Myopathy
CUI: C0026848
Disease: Myopathy
166 0.827 0.120 15 42387803 frameshift variant A/- delins 0.700 0
Paresthesia
CUI: C0030554
Disease: Paresthesia
8 0.827 0.120 15 42387803 frameshift variant A/- delins 0.700 0
Progressive spinal muscular atrophy
CUI: C4082951
Disease: Progressive spinal muscular atrophy
2 0.827 0.120 15 42387803 frameshift variant A/- delins 0.700 0
Reflex, Ankle, Absent
CUI: C0558845
Disease: Reflex, Ankle, Absent
5 0.827 0.120 15 42387803 frameshift variant A/- delins 0.700 0
Romberg's sign positive
CUI: C0240914
Disease: Romberg's sign positive
6 0.827 0.120 15 42387803 frameshift variant A/- delins 0.700 0
Shoulder girdle weakness
CUI: C0427063
Disease: Shoulder girdle weakness
4 0.827 0.120 15 42387803 frameshift variant A/- delins 0.700 0