Source: CLINVAR ×
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.
Left ventricular noncompaction
CUI: C1960469
Disease: Left ventricular noncompaction
19 0.925 0.080 14 23419911 inframe deletion CCT/- delins 0.700 1.000 2 2011 2013
Ebstein Anomaly
CUI: C0013481
Disease: Ebstein Anomaly
2 0.925 0.080 14 23419911 inframe deletion CCT/- delins 0.700 1.000 1 2011 2011