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: rs137854611
rs137854611
SCN5A
0.882 0.120 3 38597787 missense variant G/A;C;T snv 4.0E-06
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.800 1.000 25 1998 2017
dbSNP: rs137854612
rs137854612
SCN5A
0.851 0.120 3 38560170 missense variant C/T snv
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.800 1.000 25 1998 2017
dbSNP: rs199473082
rs199473082
SCN5A
1.000 0.080 3 38609824 missense variant G/A;C snv
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.800 1.000 25 1998 2017
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: rs199473620
rs199473620
SCN5A
1.000 0.080 3 38554372 stop gained C/A;T snv
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.800 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: rs28937318
rs28937318
SCN5A
0.925 0.080 3 38606709 missense variant C/A;T snv
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.800 1.000 25 1998 2017
dbSNP: rs137854600
rs137854600
SCN5A
0.807 0.120 3 38551504 missense variant C/A;T snv
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.840 1.000 24 1995 2017
dbSNP: rs137854602
rs137854602
SCN5A
0.925 0.080 3 38555664 missense variant G/A snv 5.6E-05 1.4E-05
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.800 1.000 24 1998 2017
dbSNP: rs137854605
rs137854605
SCN5A
1.000 0.120 3 38581337 missense variant GA/TT mnv
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.800 1.000 24 1995 2017
dbSNP: rs137854609
rs137854609
SCN5A
0.882 0.120 3 38581170 missense variant C/A;T snv 7.9E-05
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.800 1.000 24 1995 2017
dbSNP: rs137854614
rs137854614
SCN5A
0.882 0.120 3 38550988 missense variant T/C snv
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.810 1.000 24 1995 2017
dbSNP: rs199473083
rs199473083
SCN5A
0.925 0.080 3 38609823 missense variant C/T snv 1.6E-05
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.800 1.000 24 1998 2017
dbSNP: rs199473133
rs199473133
SCN5A
0.882 0.120 3 38603747 missense variant G/A snv 3.1E-05 6.3E-05
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.710 1.000 24 1995 2017
dbSNP: rs199473171
rs199473171
SCN5A
1.000 0.080 3 38585801 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.800 1.000 24 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: rs199473283
rs199473283
SCN5A
1.000 0.120 3 38551495 missense variant C/A;G;T snv 4.0E-05
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.810 1.000 24 1995 2017
dbSNP: rs199473310
rs199473310
SCN5A
1.000 0.120 3 38551076 missense variant T/A;C;G snv
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.800 1.000 24 1995 2017
dbSNP: rs199473311
rs199473311
SCN5A
0.882 0.120 3 38551070 missense variant T/C snv 7.0E-06
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.810 1.000 24 1995 2017
dbSNP: rs199473565
rs199473565
SCN5A
0.882 0.120 3 38606743 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.800 1.000 24 1998 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: rs137854603
rs137854603
SCN5A
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
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