rs72656307, 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 0.240 17 50187968 missense variant G/A snv 2.4E-05 2.1E-05 0.010 1.000 1 2007 2007
Osteopenia
CUI: C0029453
Disease: Osteopenia
61 0.925 0.240 17 50187968 missense variant G/A snv 2.4E-05 2.1E-05 0.010 1.000 1 2007 2007