LDLR, low density lipoprotein receptor, 3949

N. diseases: 336; N. variants: 1434
Disease: Xanthomatosis ×
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: rs1555804717
rs1555804717 		0.882 0.120 19 11111523 frameshift variant A/- del
CUI: C0043325
Disease: Xanthomatosis
Xanthomatosis 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs121908029
rs121908029 		0.763 0.200 19 11105588 stop gained G/A;C;T snv 1.6E-05; 1.6E-05; 8.1E-06
CUI: C0043325
Disease: Xanthomatosis
Xanthomatosis 		Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs774439908
rs774439908 		0.827 0.160 19 11113348 stop gained C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C0043325
Disease: Xanthomatosis
Xanthomatosis 		Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs875989914
rs875989914 		0.882 0.080 19 11110760 missense variant G/A;C snv 1.6E-05
CUI: C0043325
Disease: Xanthomatosis
Xanthomatosis 		Nutritional and Metabolic Diseases 0.010 1.000 1 1996 1996
dbSNP: rs879254850
rs879254850 		0.776 0.160 19 11113365 missense variant A/G;T snv 4.0E-06
CUI: C0043325
Disease: Xanthomatosis
Xanthomatosis 		Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006