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, FAMILIAL HYPERTROPHIC, 26
CUI: C4310749
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
43 0.882 0.120 7 128857337 splice donor variant G/A snv 0.700 1.000 1 2016 2016
Filaminopathy, autosomal dominant
CUI: C1836050
Disease: Filaminopathy, autosomal dominant
38 0.882 0.120 7 128857337 splice donor variant G/A snv 0.700 1.000 1 2016 2016
MYOPATHY, DISTAL, 4
CUI: C3279722
Disease: MYOPATHY, DISTAL, 4
38 0.882 0.120 7 128857337 splice donor variant G/A snv 0.700 1.000 1 2016 2016