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: rs121908664
rs121908664
LRP5
1.000 0.120 11 68389949 missense variant G/A snv
CUI: C0432252
Disease: Osteoporosis with pseudoglioma
Osteoporosis with pseudoglioma 		0.800 1.000 5 2001 2008
dbSNP: rs121908665
rs121908665
LRP5
1.000 0.120 11 68403606 missense variant C/T snv
CUI: C0432252
Disease: Osteoporosis with pseudoglioma
Osteoporosis with pseudoglioma 		0.800 1.000 5 2001 2008
dbSNP: rs397514665
rs397514665
LRP5
1.000 0.120 11 68363791 missense variant C/T snv 1.2E-05
CUI: C0432252
Disease: Osteoporosis with pseudoglioma
Osteoporosis with pseudoglioma 		0.800 1.000 5 2001 2008
dbSNP: rs373910016
rs373910016
LRP5
0.882 0.120 11 68386660 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C4693479
Disease: POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS
POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS 		0.800 1.000 2 2014 2017
dbSNP: rs121908669
rs121908669
LRP5
1.000 0.040 11 68357672 missense variant G/C snv
CUI: C1843330
Disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 1
OSTEOPETROSIS, AUTOSOMAL DOMINANT 1 		0.800 1.000 1 2003 2003
dbSNP: rs121908670
rs121908670
LRP5
0.882 0.080 11 68363784 missense variant G/A snv
CUI: C1843323
Disease: Van Buchem disease type 2
Van Buchem disease type 2 		0.800 1.000 1 2003 2003
dbSNP: rs121908670
rs121908670
LRP5
0.882 0.080 11 68363784 missense variant G/A snv
CUI: C0432273
Disease: Worth disease
Worth disease 		0.800 1.000 1 2003 2003
dbSNP: rs121908670
rs121908670
LRP5
0.882 0.080 11 68363784 missense variant G/A snv
CUI: C1843330
Disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 1
OSTEOPETROSIS, AUTOSOMAL DOMINANT 1 		0.800 1.000 1 2003 2003
dbSNP: rs121908671
rs121908671
LRP5
0.851 0.120 11 68357801 missense variant G/A snv
CUI: C0432273
Disease: Worth disease
Worth disease 		0.800 1.000 1 2003 2003
dbSNP: rs121908672
rs121908672
LRP5
0.925 0.080 11 68357802 missense variant C/T snv
CUI: C0432273
Disease: Worth disease
Worth disease 		0.800 1.000 1 2003 2003
dbSNP: rs121908673
rs121908673
LRP5
0.925 0.160 11 68363818 missense variant C/T snv
CUI: C1843330
Disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 1
OSTEOPETROSIS, AUTOSOMAL DOMINANT 1 		0.800 1.000 1 2003 2003
dbSNP: rs141178995
rs141178995
LRP5
1.000 11 68426112 missense variant C/G;T snv 4.0E-06; 8.0E-06
CUI: C4693479
Disease: POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS
POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS 		0.800 0
dbSNP: rs121908674
rs121908674
LRP5
0.882 0.160 11 68410076 missense variant C/G;T snv
CUI: C1866176
Disease: EXUDATIVE VITREORETINOPATHY 4 (disorder)
EXUDATIVE VITREORETINOPATHY 4 (disorder) 		0.700 1.000 8 2004 2014
dbSNP: rs1245625202
rs1245625202
LRP5
1.000 0.080 11 68390000 missense variant A/C;G snv 8.0E-06; 4.0E-06
CUI: C1866176
Disease: EXUDATIVE VITREORETINOPATHY 4 (disorder)
EXUDATIVE VITREORETINOPATHY 4 (disorder) 		0.700 1.000 8 2004 2014
dbSNP: rs1398692057
rs1398692057
LRP5
1.000 0.080 11 68413740 missense variant C/T snv 7.0E-06
CUI: C1866176
Disease: EXUDATIVE VITREORETINOPATHY 4 (disorder)
EXUDATIVE VITREORETINOPATHY 4 (disorder) 		0.700 1.000 8 2004 2014
dbSNP: rs28939709
rs28939709
LRP5
0.925 0.080 11 68436987 missense variant G/A snv 8.0E-06
CUI: C1866176
Disease: EXUDATIVE VITREORETINOPATHY 4 (disorder)
EXUDATIVE VITREORETINOPATHY 4 (disorder) 		0.700 1.000 8 2004 2014
dbSNP: rs765952535
rs765952535
LRP5
1.000 0.080 11 68411530 missense variant C/T snv 1.6E-05 1.4E-05
CUI: C1866176
Disease: EXUDATIVE VITREORETINOPATHY 4 (disorder)
EXUDATIVE VITREORETINOPATHY 4 (disorder) 		0.700 1.000 8 2004 2014
dbSNP: rs768615287
rs768615287
LRP5
0.925 0.160 11 68429695 missense variant G/A;T snv 4.0E-06
CUI: C1866176
Disease: EXUDATIVE VITREORETINOPATHY 4 (disorder)
EXUDATIVE VITREORETINOPATHY 4 (disorder) 		0.700 1.000 8 2004 2014
dbSNP: rs80358305
rs80358305
LRP5
0.882 0.160 11 68348188 missense variant C/T snv
CUI: C1866176
Disease: EXUDATIVE VITREORETINOPATHY 4 (disorder)
EXUDATIVE VITREORETINOPATHY 4 (disorder) 		0.700 1.000 8 2004 2014
dbSNP: rs80358306
rs80358306
LRP5
1.000 0.080 11 68357679 missense variant C/T snv 3.9E-04 5.0E-04
CUI: C1866176
Disease: EXUDATIVE VITREORETINOPATHY 4 (disorder)
EXUDATIVE VITREORETINOPATHY 4 (disorder) 		0.700 1.000 8 2004 2014
dbSNP: rs80358308
rs80358308
LRP5
0.925 0.080 11 68386630 missense variant C/T snv 2.0E-05 7.0E-06
CUI: C1866176
Disease: EXUDATIVE VITREORETINOPATHY 4 (disorder)
EXUDATIVE VITREORETINOPATHY 4 (disorder) 		0.700 1.000 8 2004 2014
dbSNP: rs80358309
rs80358309
LRP5
1.000 0.080 11 68390032 missense variant G/A snv 4.0E-06
CUI: C1866176
Disease: EXUDATIVE VITREORETINOPATHY 4 (disorder)
EXUDATIVE VITREORETINOPATHY 4 (disorder) 		0.700 1.000 8 2004 2014
dbSNP: rs80358310
rs80358310
LRP5
1.000 0.080 11 68403502 missense variant C/T snv 1.2E-05
CUI: C1866176
Disease: EXUDATIVE VITREORETINOPATHY 4 (disorder)
EXUDATIVE VITREORETINOPATHY 4 (disorder) 		0.700 1.000 8 2004 2014
dbSNP: rs80358311
rs80358311
LRP5
1.000 0.080 11 68403546 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C1866176
Disease: EXUDATIVE VITREORETINOPATHY 4 (disorder)
EXUDATIVE VITREORETINOPATHY 4 (disorder) 		0.700 1.000 8 2004 2014
dbSNP: rs80358312
rs80358312
LRP5
0.925 0.080 11 68403607 missense variant G/A snv 7.0E-06
CUI: C1866176
Disease: EXUDATIVE VITREORETINOPATHY 4 (disorder)
EXUDATIVE VITREORETINOPATHY 4 (disorder) 		0.700 1.000 8 2004 2014