rs886440452, 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.
Ehlers-Danlos Syndrome
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
14 0.925 0.200 17 50189478 missense variant G/A snv 4.0E-06 2.8E-05 0.010 1.000 1 2007 2007
Osteogenesis Imperfecta
CUI: C0029434
Disease: Osteogenesis Imperfecta
91 0.925 0.200 17 50189478 missense variant G/A snv 4.0E-06 2.8E-05 0.010 1.000 1 2007 2007