Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28942109
rs28942109
0.882 0.160 5 134608443 missense variant C/T snv 2.4E-05 3.5E-05
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia
Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009