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: 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: rs12720452
rs12720452
SCN5A
0.882 0.120 3 38603758 missense variant C/T snv 2.9E-04 2.9E-04
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.700 0
dbSNP: rs12720452
rs12720452
SCN5A
0.882 0.120 3 38603758 missense variant C/T snv 2.9E-04 2.9E-04
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 0
dbSNP: rs41261344
rs41261344
SCN5A
0.763 0.120 3 38575385 missense variant C/T snv 5.4E-03 2.2E-03
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.700 0
dbSNP: rs41261344
rs41261344
SCN5A
0.763 0.120 3 38575385 missense variant C/T snv 5.4E-03 2.2E-03
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 0
dbSNP: rs45514691
rs45514691
SCN5A
1.000 0.080 3 38554345 missense variant G/A;T snv 8.0E-06
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 0
dbSNP: rs45609733
rs45609733
SCN5A
0.925 0.120 3 38598998 missense variant G/A snv 4.0E-05 1.9E-04
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 0
dbSNP: rs45609733
rs45609733
SCN5A
0.925 0.120 3 38598998 missense variant G/A snv 4.0E-05 1.9E-04
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.700 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: 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: rs1060499900
rs1060499900
SCN5A
0.925 0.080 3 38551304 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 1.000 1 2013 2013
dbSNP: rs185492581
rs185492581
SCN5A
1.000 0.080 3 38630327 stop gained T/A;C snv 7.0E-06
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 1.000 1 2013 2013
dbSNP: rs3918389
rs3918389
SCN5A
1.000 0.080 3 38603948 missense variant C/A;G;T snv 1.2E-05; 2.0E-05
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 1.000 1 2013 2013
dbSNP: rs45471994
rs45471994
SCN5A
0.925 0.080 3 38613752 missense variant C/T snv 1.1E-04 4.0E-04
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 1.000 1 2013 2013
dbSNP: rs45620037
rs45620037
SCN5A
0.882 0.120 3 38613787 missense variant G/A snv 6.6E-04 6.6E-04
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 1.000 1 2013 2013
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 2 2008 2008
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 2 2004 2013
dbSNP: rs199473115
rs199473115
SCN5A
1.000 3 38604837 missense variant G/A;C snv 1.2E-05; 8.0E-06
CUI: C3151464
Disease: ATRIAL FIBRILLATION, FAMILIAL, 10
ATRIAL FIBRILLATION, FAMILIAL, 10 		0.800 1.000 2 2008 2008
dbSNP: rs199473579
rs199473579
SCN5A
1.000 3 38598978 stop gained C/A;T snv 4.0E-06 7.0E-06
CUI: C3151464
Disease: ATRIAL FIBRILLATION, FAMILIAL, 10
ATRIAL FIBRILLATION, FAMILIAL, 10 		0.800 1.000 2 2008 2008
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: rs137854618
rs137854618
SCN5A
0.742 0.120 3 38566426 missense variant C/A;T snv 8.0E-06
CUI: C4551959
Disease: ATRIAL STANDSTILL 1
ATRIAL STANDSTILL 1 		0.700 1.000 2 2003 2013
dbSNP: rs199473060
rs199473060
SCN5A
1.000 3 38622468 missense variant C/T snv 4.1E-06 7.0E-06
CUI: C3151464
Disease: ATRIAL FIBRILLATION, FAMILIAL, 10
ATRIAL FIBRILLATION, FAMILIAL, 10 		0.700 1.000 2 2008 2008
dbSNP: rs199473111
rs199473111
SCN5A
1.000 3 38606007 stop gained C/A;T snv 4.8E-05 6.3E-05
CUI: C3151464
Disease: ATRIAL FIBRILLATION, FAMILIAL, 10
ATRIAL FIBRILLATION, FAMILIAL, 10 		0.700 1.000 2 2008 2008
dbSNP: rs199473112
rs199473112
SCN5A
0.925 0.080 3 38605956 missense variant G/A;C snv 4.1E-06; 5.3E-05
CUI: C3151464
Disease: ATRIAL FIBRILLATION, FAMILIAL, 10
ATRIAL FIBRILLATION, FAMILIAL, 10 		0.700 1.000 2 2008 2008
dbSNP: rs199473197
rs199473197
SCN5A
1.000 3 38576780 missense variant G/A;C;T snv 2.5E-05
CUI: C3151464
Disease: ATRIAL FIBRILLATION, FAMILIAL, 10
ATRIAL FIBRILLATION, FAMILIAL, 10 		0.700 1.000 2 2008 2008