rs121908671, LRP5

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Worth disease
CUI: C0432273
Disease: Worth disease
3 0.851 0.120 11 68357801 missense variant G/A snv 0.800 1.000 1 2003 2003
OSTEOPETROSIS, AUTOSOMAL DOMINANT 1
CUI: C1843330
Disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 1
4 0.851 0.120 11 68357801 missense variant G/A snv 0.700 0
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
90 0.851 0.120 11 68357801 missense variant G/A snv 0.010 1.000 1 2005 2005
Macrocephaly
CUI: C0221355
Disease: Macrocephaly
10 0.851 0.120 11 68357801 missense variant G/A snv 0.010 1.000 1 2005 2005