LDLR, low density lipoprotein receptor, 3949

N. diseases: 336; N. variants: 1434
Disease: Hyperlipidemia, Familial Combined ×
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: rs148171426
rs148171426 		0.925 0.080 19 11106580 missense variant G/A snv 4.4E-05 4.9E-05
CUI: C0020474
Disease: Hyperlipidemia, Familial Combined
Hyperlipidemia, Familial Combined 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017