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 35658026 upstream gene variant -/CTTCACAGAGTAG;CTTCACAGAGTAGCTTCACAGAGTAG delins 7.9E-06; 6.3E-05; 7.9E-06; 7.9E-06; 1.6E-05; 3.2E-05 0.700 1.000 2 2005 2017
Anauxetic dysplasia
CUI: C1846796
Disease: Anauxetic dysplasia
18 0.925 0.200 9 35658026 upstream gene variant -/CTTCACAGAGTAG;CTTCACAGAGTAGCTTCACAGAGTAG delins 7.9E-06; 6.3E-05; 7.9E-06; 7.9E-06; 1.6E-05; 3.2E-05 0.700 0