PSMD9, proteasome 26S subunit, non-ATPase 9, 5715

N. diseases: 344; N. variants: 9
Disease: Hypercholesterolemia ×
Source: ALL
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: rs14259
rs14259 		0.724 0.360 12 121915890 missense variant A/C;G snv 4.0E-06; 0.32
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs3825172
rs3825172 		0.776 0.360 12 121902569 non coding transcript exon variant C/G;T snv
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs765798193
rs765798193 		0.732 0.320 12 121915884 frameshift variant G/-;GG delins
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011