rs72654799, 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.
Ehlers-Danlos Syndrome
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
14 0.882 0.200 17 50188541 missense variant G/A;C snv 6.4E-05 0.020 1.000 2 2007 2017
Osteogenesis Imperfecta
CUI: C0029434
Disease: Osteogenesis Imperfecta
91 0.882 0.200 17 50188541 missense variant G/A;C snv 6.4E-05 0.010 1.000 1 2007 2007
Lobstein Disease
CUI: C0023931
Disease: Lobstein Disease
257 0.882 0.200 17 50188541 missense variant G/A;C snv 6.4E-05 0.010 1.000 1 2017 2017