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 Heart Defects
CUI: C0018798
Disease: Congenital Heart Defects
58 0.925 0.120 19 18868625 missense variant A/G snv 5.1E-04 2.7E-04 0.700 0
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6
2 0.925 0.120 19 18868625 missense variant A/G snv 5.1E-04 2.7E-04 0.800 1.000 2 2007 2017
Heterotaxy Syndrome
CUI: C3178805
Disease: Heterotaxy Syndrome
8 0.925 0.120 19 18868625 missense variant A/G snv 5.1E-04 2.7E-04 0.700 1.000 2 2016 2017