rs72648365, 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
8 0.923 0.214 17 50193990 missense variant G/A,C snp 0.010 1.000 1 2007 2007
Osteopenia
CUI: C0029453
Disease: Osteopenia
21 0.923 0.214 17 50193990 missense variant G/A,C snp 0.010 1.000 1 2007 2007