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 1.000 0.160 9 35658014 non coding transcript exon variant G/A snv 1.1E-04 9.8E-05 0.700 1.000 9 2002 2015