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: 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: 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: 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: 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
dbSNP: rs199473335
rs199473335
SCN5A
1.000 3 38550411 missense variant G/T snv 8.8E-06 3.5E-05
CUI: C3151464
Disease: ATRIAL FIBRILLATION, FAMILIAL, 10
ATRIAL FIBRILLATION, FAMILIAL, 10 		0.700 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: rs199473635
rs199473635
SCN5A
1.000 3 38550896 missense variant G/A snv 1.6E-05 1.4E-05
CUI: C3151464
Disease: ATRIAL FIBRILLATION, FAMILIAL, 10
ATRIAL FIBRILLATION, FAMILIAL, 10 		0.700 1.000 2 2008 2008
dbSNP: rs36210423
rs36210423
SCN5A
0.882 0.120 3 38603887 missense variant G/A;C;T snv 2.1E-04; 4.9E-03
CUI: C3151464
Disease: ATRIAL FIBRILLATION, FAMILIAL, 10
ATRIAL FIBRILLATION, FAMILIAL, 10 		0.700 1.000 2 2008 2008
dbSNP: rs41315493
rs41315493
SCN5A
0.851 0.120 3 38550521 missense variant C/A;T snv 6.6E-03; 9.7E-05
CUI: C3151464
Disease: ATRIAL FIBRILLATION, FAMILIAL, 10
ATRIAL FIBRILLATION, FAMILIAL, 10 		0.700 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: C4551959
Disease: ATRIAL STANDSTILL 1
ATRIAL STANDSTILL 1 		0.700 1.000 2 2003 2013
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: 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: 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: 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: 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: 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