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.
Congenital arteriovenous malformation
CUI: C0003857
Disease: Congenital arteriovenous malformation
23 0.925 0.120 9 127825767 missense variant C/G snv 1.3E-04 7.8E-04 0.020 1.000 2 2014 2015
Arteriovenous hemangioma
CUI: C0334533
Disease: Arteriovenous hemangioma
14 0.925 0.120 9 127825767 missense variant C/G snv 1.3E-04 7.8E-04 0.010 1.000 1 2014 2014
Arteriovenous Malformations, Cerebral
CUI: C0917804
Disease: Arteriovenous Malformations, Cerebral
6 0.925 0.120 9 127825767 missense variant C/G snv 1.3E-04 7.8E-04 0.010 1.000 1 2013 2013
Vascular anomaly
CUI: C0158570
Disease: Vascular anomaly
5 0.925 0.120 9 127825767 missense variant C/G snv 1.3E-04 7.8E-04 0.010 1 2015 2015