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 43824071 missense variant C/T snv 1.5E-04 8.4E-05 0.710 1.000 1 2010 2010