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.
Cartilage-hair hypoplasia
CUI: C0220748
Disease: Cartilage-hair hypoplasia
77 0.925 0.200 9 35657776 non coding transcript exon variant T/C;G snv 1.2E-04 9.8E-05 0.700 1.000 9 2002 2016
Anauxetic dysplasia
CUI: C1846796
Disease: Anauxetic dysplasia
18 0.925 0.200 9 35657776 non coding transcript exon variant T/C;G snv 1.2E-04 9.8E-05 0.700 1.000 3 2002 2015