Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs12720452
rs12720452
0.882 0.120 3 38603758 missense variant C/T snv 2.9E-04 2.9E-04
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1
0.700 0
dbSNP: rs41261344
rs41261344
0.763 0.120 3 38575385 missense variant C/T snv 5.4E-03 2.2E-03
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1
0.700 0
dbSNP: rs45514691
rs45514691
1.000 0.080 3 38554345 missense variant G/A;T snv 8.0E-06
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1
0.700 0
dbSNP: rs45609733
rs45609733
0.925 0.120 3 38598998 missense variant G/A snv 4.0E-05 1.9E-04
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1
0.700 0
dbSNP: rs1060499900
rs1060499900
0.925 0.080 3 38551304 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1
0.700 1.000 1 2013 2013
dbSNP: rs185492581
rs185492581
1.000 0.080 3 38630327 stop gained T/A;C snv 7.0E-06
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1
0.700 1.000 1 2013 2013
dbSNP: rs3918389
rs3918389
1.000 0.080 3 38603948 missense variant C/A;G;T snv 1.2E-05; 2.0E-05
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1
0.700 1.000 1 2013 2013
dbSNP: rs45471994
rs45471994
0.925 0.080 3 38613752 missense variant C/T snv 1.1E-04 4.0E-04
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1
0.700 1.000 1 2013 2013
dbSNP: rs45620037
rs45620037
0.882 0.120 3 38613787 missense variant G/A snv 6.6E-04 6.6E-04
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1
0.700 1.000 1 2013 2013
dbSNP: rs137854600
rs137854600
0.807 0.120 3 38551504 missense variant C/A;T snv
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1
0.700 1.000 21 1998 2016
dbSNP: rs137854603
rs137854603
1.000 0.080 3 38550602 missense variant C/T snv 6.0E-05 2.8E-05
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1
0.800 1.000 21 1998 2016
dbSNP: rs137854609
rs137854609
0.882 0.120 3 38581170 missense variant C/A;T snv 7.9E-05
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1
0.700 1.000 21 1998 2016
dbSNP: rs137854615
rs137854615
0.851 0.120 3 38550989 missense variant A/G snv
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1
0.800 1.000 21 1998 2016
dbSNP: rs137854616
rs137854616
1.000 0.080 3 38566465 missense variant C/T snv 2.8E-05 7.0E-06
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1
0.700 1.000 21 1998 2016
dbSNP: rs137854617
rs137854617
0.882 0.120 3 38581002 stop gained C/A;T snv 1.1E-04 1.5E-04
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1
0.800 1.000 21 1998 2016
dbSNP: rs137854618
rs137854618
0.742 0.120 3 38566426 missense variant C/A;T snv 8.0E-06
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1
0.700 1.000 21 1998 2016
dbSNP: rs185638763
rs185638763
0.882 0.120 3 38599001 missense variant G/A;T snv 1.2E-05
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1
0.700 1.000 21 1998 2016
dbSNP: rs193922726
rs193922726
1.000 0.080 3 38551188 missense variant G/A;C snv 6.0E-05
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1
0.700 1.000 21 1998 2016
dbSNP: rs199473050
rs199473050
1.000 0.080 3 38633098 missense variant A/C snv 4.4E-05 1.4E-05
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1
0.700 1.000 21 1998 2016
dbSNP: rs199473051
rs199473051
0.925 0.120 3 38633058 missense variant C/T snv
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1
0.700 1.000 21 1998 2016
dbSNP: rs199473052
rs199473052
1.000 0.080 3 38630425 missense variant A/G snv
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1
0.700 1.000 21 1998 2016
dbSNP: rs199473053
rs199473053
1.000 0.080 3 38630422 missense variant A/C snv
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1
0.700 1.000 21 1998 2016
dbSNP: rs199473054
rs199473054
1.000 0.080 3 38630420 missense variant C/G;T snv 2.0E-05; 2.8E-05
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1
0.700 1.000 21 1998 2016
dbSNP: rs199473055
rs199473055
0.882 0.120 3 38630393 missense variant G/A;C snv 4.0E-06
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1
0.700 1.000 21 1998 2016
dbSNP: rs199473056
rs199473056
1.000 0.080 3 38630376 missense variant G/A;T snv 3.6E-05; 4.0E-06
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1
0.700 1.000 21 1998 2016