Disease: Endocardial Cushion Defects ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs113488022
rs113488022 		0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0014116
Disease: Endocardial Cushion Defects
Endocardial Cushion Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.100 1.000 21 2012 2019
dbSNP: rs121913377
rs121913377 		0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0014116
Disease: Endocardial Cushion Defects
Endocardial Cushion Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.100 1.000 21 2012 2019
dbSNP: rs1225976306
rs1225976306 		0.807 0.160 7 140924673 missense variant C/T snv 9.3E-06
CUI: C0014116
Disease: Endocardial Cushion Defects
Endocardial Cushion Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2015 2015