LDLR, low density lipoprotein receptor, 3949

N. diseases: 336; N. variants: 1434
Disease: Xanthomatosis ×
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: rs774439908
rs774439908 		0.827 0.160 19 11113348 stop gained C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C0043325
Disease: Xanthomatosis
Xanthomatosis 		Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006