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.
Sitosterolemia
CUI: C0342907
Disease: Sitosterolemia
20 1.000 0.120 2 43823926 missense variant G/A;C snv 1.3E-04; 1.6E-05 0.710 1.000 4 2001 2004