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: rs1155705
rs1155705
1.000 0.040 3 30644922 splice region variant A/G;T snv 0.37
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve
Cardiovascular Diseases 0.010 1.000 1 2016 2016