Source: BEFREE

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 4 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 2 1995 2018
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 1 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 1 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 1 1995 2017
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 1 1995 2015
dbSNP: rs199473317
rs199473317
SCN5A
0.882 0.120 3 38551003 missense variant T/C snv
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.730 1.000 3 1995 2018
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 1 1995 2017
dbSNP: rs199473225
rs199473225
SCN5A
0.851 0.120 3 38560397 missense variant G/A;C snv
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.710 1.000 1 1995 2018
dbSNP: rs199473631
rs199473631
SCN5A
0.925 0.120 3 38551085 missense variant C/T snv
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.710 1.000 1 1995 2015
dbSNP: rs79299226
rs79299226
SCN5A
0.851 0.120 3 38550898 missense variant A/G snv
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.710 1.000 1 1995 2015
dbSNP: rs137854615
rs137854615
SCN5A
0.851 0.120 3 38550989 missense variant A/G snv
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.010 1.000 1 2003 2003
dbSNP: rs185638763
rs185638763
SCN5A
0.882 0.120 3 38599001 missense variant G/A;T snv 1.2E-05
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.010 1.000 1 2018 2018
dbSNP: rs199473316
rs199473316
SCN5A
0.925 0.120 3 38551012 missense variant C/G;T snv 9.0E-04
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.010 1.000 1 2004 2004
dbSNP: rs41310765
rs41310765
SCN5A
0.882 0.120 3 38575424 missense variant G/A snv 1.4E-04 7.7E-05
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.010 1.000 1 2014 2014