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.
Hyperkeratosis, Epidermolytic
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
35 0.925 0.120 17 40822119 missense variant C/A;G;T snv 0.820 1.000 2 2000 2012
Hyperkeratosis
CUI: C0870082
Disease: Hyperkeratosis
19 0.925 0.120 17 40822119 missense variant C/A;G;T snv 0.010 1.000 1 2011 2011