rs80358313, LRP5

N. diseases: 3
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.
EXUDATIVE VITREORETINOPATHY 4 (disorder)
CUI: C1866176
Disease: EXUDATIVE VITREORETINOPATHY 4 (disorder)
22 0.882 0.160 11 68406550 missense variant G/A;C;T snv 1.2E-05; 1.2E-05; 3.2E-05 0.700 1.000 8 2004 2014
Osteoporosis with pseudoglioma
CUI: C0432252
Disease: Osteoporosis with pseudoglioma
37 0.882 0.160 11 68406550 missense variant G/A;C;T snv 1.2E-05; 1.2E-05; 3.2E-05 0.700 1.000 5 2001 2008
EXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL RECESSIVE
CUI: C4016839
Disease: EXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL RECESSIVE
5 0.882 0.160 11 68406550 missense variant G/A;C;T snv 1.2E-05; 1.2E-05; 3.2E-05 0.700 0