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: rs528302390
rs528302390
0.776 0.120 7 47831214 splice donor variant AC/- delins 3.7E-04 5.0E-04
CUI: C0040761
Disease: Transposition of Great Vessels
Transposition of Great Vessels
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2016 2016