LDLR, low density lipoprotein receptor, 3949

N. diseases: 336; N. variants: 1434
Disease: Metabolic Syndrome X ×
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: rs370471092
rs370471092 		0.925 0.080 19 11110768 stop gained G/A;T snv 6.0E-05
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs376207800
rs376207800 		0.882 0.080 19 11100340 missense variant C/G;T snv 1.2E-04
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs760034984
rs760034984 		1.000 0.040 19 11120434 synonymous variant C/T snv 4.0E-06
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs768925824
rs768925824 		0.925 0.040 19 11110693 missense variant G/A snv 4.0E-06
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs879254725
rs879254725 		0.925 0.080 19 11107508 stop gained G/T snv
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs879254728
rs879254728 		0.882 0.080 19 11107511 missense variant T/C;G snv
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008