Source: CURATED ×
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.
Dyskeratosis Congenita
CUI: C0265965
Disease: Dyskeratosis Congenita
140 0.925 0.160 20 63687936 splice acceptor variant G/A snv 0.700 1.000 1 2015 2015
Idiopathic Pulmonary Fibrosis
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
31 0.925 0.160 20 63687936 splice acceptor variant G/A snv 0.700 1.000 1 2015 2015