Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553603732
rs1553603732
DES
CUI: C0522055
Disease: Electrocardiogram abnormal
Electrocardiogram abnormal 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1553603732
rs1553603732
DES
CUI: C1865916
Disease: Bilateral ptosis
Bilateral ptosis 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1553603732
rs1553603732
DES
CUI: C1837142
Disease: Poor suck
Poor suck 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1553603732
rs1553603732
DES
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1553603732
rs1553603732
DES
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1553603732
rs1553603732
DES
CUI: C0751401
Disease: Ophthalmoparesis
Ophthalmoparesis 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1553603732
rs1553603732
DES
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1553603732
rs1553603732
DES
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1553603732
rs1553603732
DES
CUI: C1854301
Disease: Motor delay
Motor delay 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1553603732
rs1553603732
DES
CUI: C3275417
Disease: Ragged-red muscle fibers
Ragged-red muscle fibers 		T 0.700 CausalMutation CLINVAR