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.
Cardiomyopathy, Dilated, 1g
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
308 0.807 0.200 2 178570991 frameshift variant TCTT/- delins 0.700 0
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9
CUI: C1861065
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9
7 0.807 0.200 2 178570991 frameshift variant TCTT/- delins 0.700 0
Hereditary Myopathy with Early Respiratory Failure
CUI: C1863599
Disease: Hereditary Myopathy with Early Respiratory Failure
16 0.807 0.200 2 178570991 frameshift variant TCTT/- delins 0.700 0
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
230 0.807 0.200 2 178570991 frameshift variant TCTT/- delins 0.700 0
Myopathy, Early-Onset, with Fatal Cardiomyopathy
CUI: C2673677
Disease: Myopathy, Early-Onset, with Fatal Cardiomyopathy
11 0.807 0.200 2 178570991 frameshift variant TCTT/- delins 0.700 0
TIBIAL MUSCULAR DYSTROPHY, TARDIVE
CUI: C1838244
Disease: TIBIAL MUSCULAR DYSTROPHY, TARDIVE
18 0.807 0.200 2 178570991 frameshift variant TCTT/- delins 0.700 0