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.
Broad-based gait
CUI: C0856863
Disease: Broad-based gait
24 0.882 0.160 2 178535594 frameshift variant -/GT delins 0.700 0
Congenital muscular dystrophy (disorder)
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
20 0.882 0.160 2 178535594 frameshift variant -/GT delins 0.700 0
Distal muscle weakness
CUI: C0427065
Disease: Distal muscle weakness
16 0.882 0.160 2 178535594 frameshift variant -/GT delins 0.700 0
Gowers sign
CUI: C0234182
Disease: Gowers sign
8 0.882 0.160 2 178535594 frameshift variant -/GT delins 0.700 0
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
59 0.882 0.160 2 178535594 frameshift variant -/GT delins 0.700 0
Heart murmur
CUI: C0018808
Disease: Heart murmur
10 0.882 0.160 2 178535594 frameshift variant -/GT delins 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.882 0.160 2 178535594 frameshift variant -/GT delins 0.700 0
Severe muscular hypotonia
CUI: C1839630
Disease: Severe muscular hypotonia
9 0.882 0.160 2 178535594 frameshift variant -/GT delins 0.700 0