LDLR, low density lipoprotein receptor, 3949

N. diseases: 336; N. variants: 1434
Disease: Familial hypercholesterolemia - heterozygous ×
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: rs121908025
rs121908025 		0.851 0.080 19 11102732 missense variant T/C;G snv 2.8E-05 7.0E-06
CUI: C0342882
Disease: Familial hypercholesterolemia - heterozygous
Familial hypercholesterolemia - heterozygous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.040 1.000 4 1996 2001
dbSNP: rs368657165
rs368657165 		0.827 0.080 19 11107436 stop gained G/A;T snv 4.0E-05
CUI: C0342882
Disease: Familial hypercholesterolemia - heterozygous
Familial hypercholesterolemia - heterozygous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.020 1.000 2 1994 1996
dbSNP: rs1035071612
rs1035071612 		0.763 0.240 19 11113361 missense variant C/A;T snv 4.0E-06
CUI: C0342882
Disease: Familial hypercholesterolemia - heterozygous
Familial hypercholesterolemia - heterozygous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 1996 1996
dbSNP: rs1057519661
rs1057519661 		0.882 0.080 19 11105587 frameshift variant C/- del
CUI: C0342882
Disease: Familial hypercholesterolemia - heterozygous
Familial hypercholesterolemia - heterozygous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs121908028
rs121908028 		0.851 0.080 19 11105587 missense variant C/A;G;T snv 8.1E-06; 8.1E-05
CUI: C0342882
Disease: Familial hypercholesterolemia - heterozygous
Familial hypercholesterolemia - heterozygous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs121908033
rs121908033 		0.882 0.080 19 11105429 missense variant G/A;T snv 8.0E-06
CUI: C0342882
Disease: Familial hypercholesterolemia - heterozygous
Familial hypercholesterolemia - heterozygous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs121908037
rs121908037 		0.882 0.080 19 11129654 missense variant G/A snv
CUI: C0342882
Disease: Familial hypercholesterolemia - heterozygous
Familial hypercholesterolemia - heterozygous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 1995 1995
dbSNP: rs121908038
rs121908038 		0.882 0.080 19 11113293 missense variant T/A snv
CUI: C0342882
Disease: Familial hypercholesterolemia - heterozygous
Familial hypercholesterolemia - heterozygous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 1995 1995
dbSNP: rs1249040838
rs1249040838 		0.827 0.120 19 11113699 missense variant G/A snv 4.0E-06
CUI: C0342882
Disease: Familial hypercholesterolemia - heterozygous
Familial hypercholesterolemia - heterozygous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs138947766
rs138947766 		0.851 0.080 19 11116883 stop gained G/A;C snv 8.0E-06
CUI: C0342882
Disease: Familial hypercholesterolemia - heterozygous
Familial hypercholesterolemia - heterozygous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 1996 1996
dbSNP: rs28942078
rs28942078 		0.827 0.080 19 11113376 missense variant G/A;C;T snv 1.2E-05
CUI: C0342882
Disease: Familial hypercholesterolemia - heterozygous
Familial hypercholesterolemia - heterozygous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs28942084
rs28942084 		0.763 0.200 19 11120436 missense variant C/A;T snv 2.8E-05 4.2E-05
CUI: C0342882
Disease: Familial hypercholesterolemia - heterozygous
Familial hypercholesterolemia - heterozygous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs758493253
rs758493253 		1.000 0.080 19 11111634 missense variant C/T snv 4.0E-06
CUI: C0342882
Disease: Familial hypercholesterolemia - heterozygous
Familial hypercholesterolemia - heterozygous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs759003763
rs759003763 		0.827 0.120 19 11113585 missense variant G/A snv
CUI: C0342882
Disease: Familial hypercholesterolemia - heterozygous
Familial hypercholesterolemia - heterozygous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs879254448
rs879254448 		0.925 0.080 19 11102718 missense variant G/A;C;T snv
CUI: C0342882
Disease: Familial hypercholesterolemia - heterozygous
Familial hypercholesterolemia - heterozygous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs879254810
rs879254810 		1.000 0.080 19 11111611 missense variant C/A;G snv
CUI: C0342882
Disease: Familial hypercholesterolemia - heterozygous
Familial hypercholesterolemia - heterozygous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 1997 1997
dbSNP: rs879254850
rs879254850 		0.776 0.160 19 11113365 missense variant A/G;T snv 4.0E-06
CUI: C0342882
Disease: Familial hypercholesterolemia - heterozygous
Familial hypercholesterolemia - heterozygous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs879254925
rs879254925 		0.790 0.120 19 11113680 missense variant G/T snv
CUI: C0342882
Disease: Familial hypercholesterolemia - heterozygous
Familial hypercholesterolemia - heterozygous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2005 2005