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 6B
CUI: C0268344
Disease: Ehlers-Danlos syndrome 6B
4 0.925 0.160 16 88431728 stop gained G/A;T snv 2.0E-05 0.710 1.000 1 2015 2015
Keratoconus
CUI: C0022578
Disease: Keratoconus
83 0.925 0.160 16 88431728 stop gained G/A;T snv 2.0E-05 0.010 1.000 1 2015 2015