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: rs804280
rs804280
0.882 0.120 8 11755189 intron variant C/A;G snv
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2017 2017