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: rs11752813
rs11752813
6 42960279 upstream gene variant C/G snv 0.41
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2017 2017