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: rs199715380
rs199715380
2 130597533 missense variant C/T snv
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2007 2007