LDLR, low density lipoprotein receptor, 3949

N. diseases: 336; N. variants: 1434
Disease: Eyelid Xanthoma ×
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: rs879254965
rs879254965 		0.827 0.200 19 11116140 missense variant G/A;C;T snv
CUI: C0155210
Disease: Eyelid Xanthoma
Eyelid Xanthoma 		Nutritional and Metabolic Diseases; Eye Diseases 0.700 0
dbSNP: rs879254977
rs879254977 		0.827 0.120 19 11116168 stop gained -/GCTGGTGA delins
CUI: C0155210
Disease: Eyelid Xanthoma
Eyelid Xanthoma 		Nutritional and Metabolic Diseases; Eye Diseases 0.700 0
dbSNP: rs879255051
rs879255051 		0.827 0.120 19 11120091 splice acceptor variant G/A;C snv
CUI: C0155210
Disease: Eyelid Xanthoma
Eyelid Xanthoma 		Nutritional and Metabolic Diseases; Eye Diseases 0.700 0
dbSNP: rs879255136
rs879255136 		0.882 0.120 19 11120475 missense variant G/A;T snv
CUI: C0155210
Disease: Eyelid Xanthoma
Eyelid Xanthoma 		Nutritional and Metabolic Diseases; Eye Diseases 0.700 0
dbSNP: rs879255193
rs879255193 		0.851 0.120 19 11129512 splice acceptor variant G/A;C snv
CUI: C0155210
Disease: Eyelid Xanthoma
Eyelid Xanthoma 		Nutritional and Metabolic Diseases; Eye Diseases 0.700 0
dbSNP: rs879255196
rs879255196 		0.827 0.120 19 11129519 missense variant T/G snv
CUI: C0155210
Disease: Eyelid Xanthoma
Eyelid Xanthoma 		Nutritional and Metabolic Diseases; Eye Diseases 0.700 0