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: rs200478425
rs200478425
1.000 0.040 17 44075780 missense variant G/A;C snv 4.0E-06; 5.6E-05
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2013 2013