LDLR, low density lipoprotein receptor, 3949

N. diseases: 336; N. variants: 1434
Disease: Dyslipidemias ×
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: rs1057519655
rs1057519655 		1.000 0.080 19 11105516 missense variant T/C;G snv 4.0E-06
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs544453230
rs544453230 		0.882 0.080 19 11110714 missense variant G/A;C snv 2.8E-05; 4.0E-06
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs730882082
rs730882082 		0.882 0.080 19 11105315 missense variant G/A;T snv 1.6E-05
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs730882087
rs730882087 		19 11106640 missense variant GG/AC mnv
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		Nutritional and Metabolic Diseases 0.010 1.000 1 1995 1995
dbSNP: rs879254535
rs879254535 		0.925 0.080 19 11105369 missense variant T/A;C;G snv
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014