LRP5, LDL receptor related protein 5, 4041

N. diseases: 283; N. variants: 99
Disease: Exudative vitreoretinopathy 1 ×
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: rs201030241
rs201030241 		1.000 0.080 11 68446497 missense variant A/G snv 3.7E-04 5.6E-05
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1320065036
rs1320065036 		0.925 0.160 11 68386342 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1332274863
rs1332274863 		1.000 0.080 11 68386441 missense variant G/A snv 4.0E-06
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs989864153
rs989864153 		1.000 0.080 11 68406592 missense variant C/A;T snv 4.0E-06
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0