rs957176669, ABCG8

N. diseases: 1
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 43871975 splice acceptor variant G/A;C snv 4.0E-06 0.700 1.000 1 2017 2017