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.
Adult junctional epidermolysis bullosa (disorder)
CUI: C0268374
Disease: Adult junctional epidermolysis bullosa (disorder)
35 0.882 0.080 17 75757312 splice donor variant T/C snv 2.0E-05 0.700 1.000 2 1999 2002
Epidermolysis bullosa with pyloric atresia
CUI: C1856934
Disease: Epidermolysis bullosa with pyloric atresia
17 0.882 0.080 17 75757312 splice donor variant T/C snv 2.0E-05 0.700 1.000 2 1999 2002
Weber-Cockayne Syndrome
CUI: C0080333
Disease: Weber-Cockayne Syndrome
42 0.882 0.080 17 75757312 splice donor variant T/C snv 2.0E-05 0.700 1.000 2 1999 2002