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.
Hereditary Myopathy with Early Respiratory Failure
CUI: C1863599
Disease: Hereditary Myopathy with Early Respiratory Failure
16 0.851 0.200 2 178546102 missense variant A/G snv 4.1E-06 0.730 1.000 3 2014 2016
Cardiomyopathy, Dilated, 1g
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
308 0.851 0.200 2 178546102 missense variant A/G snv 4.1E-06 0.700 1.000 4 2014 2015
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
230 0.851 0.200 2 178546102 missense variant A/G snv 4.1E-06 0.700 1.000 4 2014 2015
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 0.851 0.200 2 178546102 missense variant A/G snv 4.1E-06 0.700 0
Myofibrillar Myopathy
CUI: C2678065
Disease: Myofibrillar Myopathy
24 0.851 0.200 2 178546102 missense variant A/G snv 4.1E-06 0.020 1.000 2 2013 2014