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, DISTAL, 5
CUI: C4310754
Disease: MYOPATHY, DISTAL, 5
2 0.851 0.040 14 104741231 missense variant G/A snv 3.4E-05 2.8E-05 0.800 0
Atrophic scar
CUI: C0162154
Disease: Atrophic scar
3 0.851 0.040 14 104741231 missense variant G/A snv 3.4E-05 2.8E-05 0.700 0
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
57 0.851 0.040 14 104741231 missense variant G/A snv 3.4E-05 2.8E-05 0.700 0
BLEPHAROSPASM, BENIGN ESSENTIAL, SUSCEPTIBILITY TO
CUI: C4692845
Disease: BLEPHAROSPASM, BENIGN ESSENTIAL, SUSCEPTIBILITY TO
2 0.851 0.040 14 104741231 missense variant G/A snv 3.4E-05 2.8E-05 0.700 0
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
509 0.851 0.040 14 104741231 missense variant G/A snv 3.4E-05 2.8E-05 0.700 0
Distal muscle weakness
CUI: C0427065
Disease: Distal muscle weakness
16 0.851 0.040 14 104741231 missense variant G/A snv 3.4E-05 2.8E-05 0.700 0
Facial muscle weakness of muscles innervated by CN VII
CUI: C1858719
Disease: Facial muscle weakness of muscles innervated by CN VII
3 0.851 0.040 14 104741231 missense variant G/A snv 3.4E-05 2.8E-05 0.700 0
Flexion contracture - elbow
CUI: C0409338
Disease: Flexion contracture - elbow
14 0.851 0.040 14 104741231 missense variant G/A snv 3.4E-05 2.8E-05 0.700 0
Keratoconjunctivitis Sicca
CUI: C0022575
Disease: Keratoconjunctivitis Sicca
3 0.851 0.040 14 104741231 missense variant G/A snv 3.4E-05 2.8E-05 0.700 0
Proximal muscle weakness
CUI: C0221629
Disease: Proximal muscle weakness
11 0.851 0.040 14 104741231 missense variant G/A snv 3.4E-05 2.8E-05 0.700 0