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: rs751751942
rs751751942
1.000 0.080 17 8289312 missense variant G/A;C snv 4.0E-06; 3.2E-05
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.020 1.000 2 2011 2018
dbSNP: rs140704891
rs140704891
1.000 0.080 17 8289059 stop gained G/A;T snv 4.0E-06; 4.0E-03
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs370613922
rs370613922
1.000 0.080 17 8289425 missense variant G/A;C snv 1.6E-05
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2014 2014