LDLR, low density lipoprotein receptor, 3949

N. diseases: 336; N. variants: 1434
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE ×
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: rs374045590
rs374045590 		0.827 0.080 19 11129598 missense variant C/A;G snv 4.0E-06; 8.0E-06
CUI: C1863512
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE 		Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs879254382
rs879254382 		0.882 0.080 19 11089549 start lost A/C;G;T snv
CUI: C1863512
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE 		Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019