Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1553603732
rs1553603732
DES
1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		0.700 0
dbSNP: rs1553603732
rs1553603732
DES
1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins
CUI: C1837142
Disease: Poor suck
Poor suck 		0.700 0
dbSNP: rs1553603732
rs1553603732
DES
1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins
CUI: C0522055
Disease: Electrocardiogram abnormal
Electrocardiogram abnormal 		0.700 0
dbSNP: rs1553603732
rs1553603732
DES
1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins
CUI: C0751401
Disease: Ophthalmoparesis
Ophthalmoparesis 		0.700 0
dbSNP: rs1553603732
rs1553603732
DES
1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins
CUI: C1854301
Disease: Motor delay
Motor delay 		0.700 0
dbSNP: rs1553603732
rs1553603732
DES
1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness 		0.700 0
dbSNP: rs1553603732
rs1553603732
DES
1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins
CUI: C1865916
Disease: Bilateral ptosis
Bilateral ptosis 		0.700 0
dbSNP: rs1553603732
rs1553603732
DES
1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins
CUI: C3275417
Disease: Ragged-red muscle fibers
Ragged-red muscle fibers 		0.700 0
dbSNP: rs1553603732
rs1553603732
DES
1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 0
dbSNP: rs1553603732
rs1553603732
DES
1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.700 0