rs67394386, COL1A1

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.
Narrow thorax
CUI: C0426790
Disease: Narrow thorax
18 1.000 0.120 17 50188131 missense variant C/A;T snv 0.700 0
Prominent forehead
CUI: C1837260
Disease: Prominent forehead
25 1.000 0.120 17 50188131 missense variant C/A;T snv 0.700 0
Osteogenesis imperfecta type III (disorder)
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
67 1.000 0.120 17 50188131 missense variant C/A;T snv 0.700 1.000 1 2015 2015