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: 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: 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: C1843323
Disease: Van Buchem disease type 2
Van Buchem disease type 2 		0.800 1.000 1 2003 2003