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.
Diabetes mellitus autosomal dominant type II (disorder)
CUI: C0342277
Disease: Diabetes mellitus autosomal dominant type II (disorder)
139 0.882 0.080 7 44147834 splice acceptor variant C/T snv 0.700 1.000 4 2003 2009
Hyperglycemia
CUI: C0020456
Disease: Hyperglycemia
108 0.882 0.080 7 44147834 splice acceptor variant C/T snv 0.700 1.000 4 2003 2009
Monogenic diabetes
CUI: C3888631
Disease: Monogenic diabetes
19 0.882 0.080 7 44147834 splice acceptor variant C/T snv 0.700 1.000 4 2003 2009