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 0.160 9 134820135 missense variant G/A snv 0.020 1.000 2 2000 2002
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
81 0.925 0.160 9 134820135 missense variant G/A snv 0.700 0