rs67707918, 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.
Osteogenesis imperfecta type IV (disorder)
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
65 0.925 0.080 7 94410501 missense variant G/A;T snv 0.700 1.000 1 2015 2015
Hypodontia
CUI: C0020608
Disease: Hypodontia
48 0.925 0.080 7 94410501 missense variant G/A;T snv 0.010 1.000 1 2012 2012