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 35657872 non coding transcript exon variant C/A;G;T snv 7.7E-06; 3.1E-05; 4.6E-05 0.700 1.000 5 2002 2010
Anauxetic dysplasia
CUI: C1846796
Disease: Anauxetic dysplasia
18 0.925 0.200 9 35657872 non coding transcript exon variant C/A;G;T snv 7.7E-06; 3.1E-05; 4.6E-05 0.700 1.000 3 2002 2007