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.
Glycogen Storage Disease Type VII
CUI: C0017926
Disease: Glycogen Storage Disease Type VII
9 1.000 0.160 12 48131394 splice donor variant G/A snv 1.3E-04; 4.0E-06 6.3E-05 0.700 1.000 3 1993 1995
Rhabdomyolysis
CUI: C0035410
Disease: Rhabdomyolysis
15 1.000 0.160 12 48131394 splice donor variant G/A snv 1.3E-04; 4.0E-06 6.3E-05 0.700 1.000 1 2017 2017