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: rs199473086
rs199473086
SCN5A
1.000 0.080 3 38609788 missense variant C/T snv 4.0E-06; 2.4E-05 3.5E-05
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 1.000 25 1998 2017
dbSNP: rs199473637
rs199473637
SCN5A
1.000 0.080 3 38550569 missense variant C/T snv 2.8E-05 1.4E-05
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 1.000 25 1998 2017
dbSNP: rs199473207
rs199473207
SCN5A
0.882 0.120 3 38566555 missense variant G/A snv
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 1.000 24 1998 2017
dbSNP: rs199473278
rs199473278
SCN5A
1.000 0.120 3 38554306 missense variant A/T snv 1.0E-04 9.1E-05
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.700 1.000 24 1995 2017
dbSNP: rs199473640
rs199473640
SCN5A
1.000 0.120 3 38550338 missense variant G/A snv 4.3E-05 2.1E-05
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.700 1.000 24 1995 2017
dbSNP: rs137854600
rs137854600
SCN5A
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: rs137854609
rs137854609
SCN5A
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: rs137854616
rs137854616
SCN5A
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: rs137854618
rs137854618
SCN5A
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
SCN5A
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
SCN5A
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
SCN5A
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
SCN5A
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
SCN5A
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
SCN5A
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
SCN5A
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
SCN5A
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
SCN5A
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
dbSNP: rs199473058
rs199473058
SCN5A
0.925 0.080 3 38630341 missense variant C/T snv 4.0E-06
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 1.000 21 1998 2016
dbSNP: rs199473062
rs199473062
SCN5A
0.827 0.120 3 38622401 stop gained C/A;G;T snv 4.1E-06
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 1.000 21 1998 2016
dbSNP: rs199473063
rs199473063
SCN5A
1.000 0.080 3 38620929 missense variant C/G snv
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 1.000 21 1998 2016
dbSNP: rs199473065
rs199473065
SCN5A
1.000 0.080 3 38620921 missense variant G/C snv
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 1.000 21 1998 2016
dbSNP: rs199473066
rs199473066
SCN5A
1.000 0.080 3 38620910 missense variant A/G snv
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 1.000 21 1998 2016
dbSNP: rs199473067
rs199473067
SCN5A
1.000 0.080 3 38620900 missense variant G/A;T snv 1.6E-05
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 1.000 21 1998 2016
dbSNP: rs199473070
rs199473070
SCN5A
0.925 0.120 3 38613811 missense variant A/G;T snv
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 1.000 21 1998 2016