rs1553603732, DES

N. diseases: 10
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.
Bilateral ptosis
CUI: C1865916
Disease: Bilateral ptosis
14 1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins 0.700 0
Electrocardiogram abnormal
CUI: C0522055
Disease: Electrocardiogram abnormal
54 1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins 0.700 0
Motor delay
CUI: C1854301
Disease: Motor delay
34 1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins 0.700 0
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
48 1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins 0.700 0
Ophthalmoparesis
CUI: C0751401
Disease: Ophthalmoparesis
4 1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins 0.700 0
Poor suck
CUI: C1837142
Disease: Poor suck
31 1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins 0.700 0
Progressive muscle weakness
CUI: C0240421
Disease: Progressive muscle weakness
15 1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins 0.700 0
Ragged-red muscle fibers
CUI: C3275417
Disease: Ragged-red muscle fibers
1 1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins 0.700 0
Skeletal muscle atrophy
CUI: C0541794
Disease: Skeletal muscle atrophy
12 1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins 0.700 0