rs137852988, ABCG8

N. diseases: 2
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 43875377 missense variant G/A snv 6.4E-05 2.2E-04 0.700 1.000 3 2000 2004
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
711 1.000 0.120 2 43875377 missense variant G/A snv 6.4E-05 2.2E-04 0.010 1.000 1 2013 2013