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: rs149989682
rs149989682
0.790 0.240 16 2317763 missense variant T/A;C snv 2.3E-03
CUI: C0034088
Disease: Pulmonary Valve Insufficiency
Pulmonary Valve Insufficiency
Cardiovascular Diseases 0.700 0