LDLR, low density lipoprotein receptor, 3949

N. diseases: 336; N. variants: 1434
Disease: Hyperlipoproteinemia Type IIa ×
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: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.860 1.000 37 1989 2017
dbSNP: rs28942078
rs28942078 		0.827 0.080 19 11113376 missense variant G/A;C;T snv 1.2E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.840 1.000 35 1989 2017
dbSNP: rs138947766
rs138947766 		0.851 0.080 19 11116883 stop gained G/A;C snv 8.0E-06
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.830 1.000 34 1989 2018
dbSNP: rs139624145
rs139624145 		0.925 0.080 19 11113620 missense variant G/A;C;T snv 4.0E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 34 1989 2017
dbSNP: rs368657165
rs368657165 		0.827 0.080 19 11107436 stop gained G/A;T snv 4.0E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.820 1.000 33 1989 2017
dbSNP: rs879255000
rs879255000 		0.851 0.080 19 11116882 missense variant T/C;G snv
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.820 1.000 33 1989 2017
dbSNP: rs121908028
rs121908028 		0.851 0.080 19 11105587 missense variant C/A;G;T snv 8.1E-06; 8.1E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 32 1989 2017
dbSNP: rs121908033
rs121908033 		0.882 0.080 19 11105429 missense variant G/A;T snv 8.0E-06
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 32 1989 2017
dbSNP: rs28942083
rs28942083 		0.925 0.080 19 11120382 missense variant G/A;T snv 4.0E-06
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 32 1989 2017
dbSNP: rs397509365
rs397509365 		0.925 0.080 19 11116197 missense variant A/C;G snv 8.0E-06
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 32 1989 2017
dbSNP: rs746982741
rs746982741 		0.925 0.080 19 11111550 missense variant A/C;G snv 2.4E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 32 1989 2017
dbSNP: rs758194385
rs758194385 		0.925 0.080 19 11116198 missense variant A/G snv 2.8E-05 7.0E-06
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 32 1989 2017
dbSNP: rs879254456
rs879254456 		0.925 0.080 19 11102756 missense variant T/A;C;G snv
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 32 1989 2017
dbSNP: rs879254630
rs879254630 		0.925 0.080 19 11105577 missense variant A/C;G;T snv
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 32 1989 2017
dbSNP: rs879254739
rs879254739 		0.925 0.080 19 11110664 missense variant G/A;T snv
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 32 1989 2017
dbSNP: rs879254769
rs879254769 		0.925 0.080 19 11110765 missense variant T/A;C snv
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 32 1989 2017
dbSNP: rs879254849
rs879254849 		0.925 0.080 19 11113359 missense variant T/C snv
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 32 1989 2017
dbSNP: rs121908036
rs121908036 		0.925 0.080 19 11113388 missense variant G/C;T snv
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 31 1989 2017
dbSNP: rs121908039
rs121908039 		0.882 0.080 19 11105457 missense variant G/A;C snv
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 31 1989 2017
dbSNP: rs121908040
rs121908040 		0.851 0.080 19 11106652 missense variant G/A;T snv 1.2E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 31 1989 2017
dbSNP: rs121908041
rs121908041 		0.925 0.080 19 11100292 missense variant G/A;C snv
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 31 1989 2017
dbSNP: rs121908043
rs121908043 		0.882 0.080 19 11113307 missense variant C/A;T snv 4.0E-06; 1.6E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 31 1989 2017
dbSNP: rs137853960
rs137853960 		1.000 0.080 19 11100303 missense variant G/A;T snv 6.8E-05; 5.3E-04
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 31 1989 2017
dbSNP: rs140241383
rs140241383 		0.925 0.080 19 11107432 missense variant C/A;T snv 2.8E-05; 3.7E-04
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 31 1989 2017
dbSNP: rs144172724
rs144172724 		0.851 0.080 19 11102774 stop gained G/A;T snv 1.6E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 31 1989 2017