Source: CLINVAR

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: 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 0 1995 2017
dbSNP: rs137854601
rs137854601
SCN5A
0.776 0.120 3 38551022 stop gained C/A;T snv 4.0E-06
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.820 1.000 6 1995 2018
dbSNP: rs199473603
rs199473603
SCN5A
0.882 0.120 3 38562467 missense variant G/A snv 1.8E-04 2.1E-04
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.810 1.000 5 1995 2015
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 0 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 0 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 0 1995 2017
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 6 1998 2016
dbSNP: rs28937316
rs28937316
SCN5A
0.882 0.120 3 38551441 missense variant C/A;T snv 4.0E-06
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.800 1.000 4 1995 2015
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 1 1998 2017
dbSNP: rs72549410
rs72549410
SCN5A
0.851 0.120 3 38606058 missense variant C/T snv
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.800 1.000 1 1995 2016
dbSNP: rs137854601
rs137854601
SCN5A
0.776 0.120 3 38551022 stop gained C/A;T snv 4.0E-06
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.800 1.000 0 1998 2016
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 0 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 0 1995 2017
dbSNP: rs137854607
rs137854607
SCN5A
0.882 0.120 3 38554309 missense variant C/G;T snv
CUI: C1879286
Disease: Hereditary bundle branch system defect
Hereditary bundle branch system defect 		0.800 1.000 0 2001 2013
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 0 1995 2017
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 0 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 0 1998 2017
dbSNP: rs137854612
rs137854612
SCN5A
0.851 0.120 3 38560170 missense variant C/T snv
CUI: C1837845
Disease: SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE
SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE 		0.800 1.000 0 2001 2012
dbSNP: rs137854615
rs137854615
SCN5A
0.851 0.120 3 38550989 missense variant A/G snv
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.800 1.000 0 1998 2016
dbSNP: rs137854617
rs137854617
SCN5A
0.882 0.120 3 38581002 stop gained C/A;T snv 1.1E-04 1.5E-04
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.800 1.000 0 1995 2015
dbSNP: rs137854617
rs137854617
SCN5A
0.882 0.120 3 38581002 stop gained C/A;T snv 1.1E-04 1.5E-04
CUI: C3151464
Disease: ATRIAL FIBRILLATION, FAMILIAL, 10
ATRIAL FIBRILLATION, FAMILIAL, 10 		0.800 1.000 0 2008 2008
dbSNP: rs137854617
rs137854617
SCN5A
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 0 1998 2016
dbSNP: rs137854618
rs137854618
SCN5A
0.742 0.120 3 38566426 missense variant C/A;T snv 8.0E-06
CUI: C1832680
Disease: CARDIOMYOPATHY, DILATED, 1E
CARDIOMYOPATHY, DILATED, 1E 		0.800 1.000 0 2004 2013
dbSNP: rs199473072
rs199473072
SCN5A
0.827 0.160 3 38613773 missense variant G/A snv 1.2E-05 8.4E-05
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.800 1.000 0 1995 2015
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 0 1998 2017