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: 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: 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: 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: 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: 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 21 1998 2016
dbSNP: rs137854616
rs137854616
SCN5A
1.000 0.080 3 38566465 missense variant C/T snv 2.8E-05 7.0E-06
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 1.000 21 1998 2016
dbSNP: rs193922726
rs193922726
SCN5A
1.000 0.080 3 38551188 missense variant G/A;C snv 6.0E-05
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 1.000 21 1998 2016
dbSNP: rs199473050
rs199473050
SCN5A
1.000 0.080 3 38633098 missense variant A/C snv 4.4E-05 1.4E-05
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 1.000 21 1998 2016
dbSNP: rs199473052
rs199473052
SCN5A
1.000 0.080 3 38630425 missense variant A/G snv
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 1.000 21 1998 2016
dbSNP: rs199473053
rs199473053
SCN5A
1.000 0.080 3 38630422 missense variant A/C snv
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 1.000 21 1998 2016
dbSNP: rs199473054
rs199473054
SCN5A
1.000 0.080 3 38630420 missense variant C/G;T snv 2.0E-05; 2.8E-05
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 1.000 21 1998 2016
dbSNP: rs199473056
rs199473056
SCN5A
1.000 0.080 3 38630376 missense variant G/A;T snv 3.6E-05; 4.0E-06
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 1.000 21 1998 2016