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: rs137854604
rs137854604
SCN5A
0.882 0.120 3 38551243 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C2751898
Disease: Ventricular Fibrillation, Paroxysmal Familial, 1
Ventricular Fibrillation, Paroxysmal Familial, 1 		0.710 < 0.001 1 2000 2000
dbSNP: rs199473190
rs199473190
SCN5A
1.000 0.040 3 38579474 missense variant C/G;T snv 8.2E-06
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		0.700 1.000 3 2008 2011
dbSNP: rs199473627
rs199473627
SCN5A
1.000 0.040 3 38551258 missense variant A/G snv
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		0.700 1.000 3 2008 2011
dbSNP: rs199473573
rs199473573
SCN5A
0.925 0.120 3 38604007 missense variant A/C snv 1.6E-05 7.0E-06
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		0.700 1.000 2 2008 2009
dbSNP: rs199473604
rs199473604
SCN5A
0.882 0.120 3 38560394 missense variant G/T snv
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		0.710 1.000 2 2008 2009
dbSNP: rs137854611
rs137854611
SCN5A
0.882 0.120 3 38597787 missense variant G/A;C;T snv 4.0E-06
CUI: C1837845
Disease: SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE
SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE 		0.700 1.000 3 2001 2012
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 3 2001 2012
dbSNP: rs28937319
rs28937319
SCN5A
1.000 0.080 3 38562485 missense variant G/A snv 7.0E-06
CUI: C1837845
Disease: SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE
SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE 		0.800 1.000 3 2001 2012
dbSNP: rs45620037
rs45620037
SCN5A
0.882 0.120 3 38613787 missense variant G/A snv 6.6E-04 6.6E-04
CUI: C1837845
Disease: SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE
SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE 		0.800 0
dbSNP: rs727504495
rs727504495
SCN5A
1.000 0.080 3 38550998 missense variant C/A;T snv 4.0E-06; 2.0E-05
CUI: C1837845
Disease: SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE
SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE 		0.700 0
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: 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: 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: 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: 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: 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 20 1995 2018
dbSNP: rs137854610
rs137854610
SCN5A
0.925 0.120 3 38550895 missense variant C/T snv 2.8E-05 1.7E-04
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.700 1.000 20 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: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.800 1.000 20 1995 2015
dbSNP: rs137854619
rs137854619
SCN5A
0.925 0.120 3 38550917 missense variant C/T snv 2.7E-04 7.7E-05
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.700 1.000 20 1995 2015
dbSNP: rs150264233
rs150264233
SCN5A
1.000 0.120 3 38550661 stop gained G/A;T snv 1.3E-04 3.9E-04
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.700 1.000 20 1995 2015