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: rs121908557
rs121908557
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 2 2004 2008
dbSNP: rs912001256
rs912001256
0.851 0.240 17 63947062 stop gained G/A snv
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0