rs397514672, COL1A1

N. diseases: 2
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.
Osteogenesis imperfecta, recessive perinatal lethal
CUI: C0268360
Disease: Osteogenesis imperfecta, recessive perinatal lethal
51 1.000 0.120 17 50185866 missense variant G/A snv 0.700 0
Bone Diseases
CUI: C0005940
Disease: Bone Diseases
10 1.000 0.120 17 50185866 missense variant G/A snv 0.010 1.000 1 2016 2016