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 35657836 non coding transcript exon variant C/A;G;T snv 0.700 1.000 5 2005 2015