Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1320065036
rs1320065036
LRP5
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 		0.700 0
dbSNP: rs1320065036
rs1320065036
LRP5
0.925 0.160 11 68386342 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0432252
Disease: Osteoporosis with pseudoglioma
Osteoporosis with pseudoglioma 		0.700 0