rs67768540, COL1A2

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.
Lobstein Disease
CUI: C0023931
Disease: Lobstein Disease
257 0.925 0.120 7 94427663 missense variant G/A;C;T snv 0.700 1.000 1 2015 2015
Osteogenesis imperfecta type IV (disorder)
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
65 0.925 0.120 7 94427663 missense variant G/A;C;T snv 0.700 0