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: 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: 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: rs199473092
rs199473092
SCN5A
0.925 0.080 3 38608175 missense variant A/C snv
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 1.000 21 1998 2016
dbSNP: rs199473176
rs199473176
SCN5A
1.000 0.080 3 38585728 missense variant A/C snv
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 1.000 21 1998 2016
dbSNP: rs199473221
rs199473221
SCN5A
1.000 0.080 3 38560424 missense variant A/C snv
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 1.000 21 1998 2016
dbSNP: rs199473232
rs199473232
SCN5A
1.000 0.080 3 38560340 missense variant A/C snv
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 1.000 21 1998 2016
dbSNP: rs199473236
rs199473236
SCN5A
1.000 0.080 3 38560313 missense variant A/C snv
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 1.000 21 1998 2016
dbSNP: rs199473274
rs199473274
SCN5A
1.000 0.080 3 38554380 missense variant A/C snv
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 1.000 21 1998 2016
dbSNP: rs199473566
rs199473566
SCN5A
1.000 0.080 3 38606689 missense variant A/C snv
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 1.000 21 1998 2016
dbSNP: rs199473120
rs199473120
SCN5A
1.000 0.120 3 38604014 missense variant A/C snv 2.4E-05
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.700 1.000 20 1995 2015
dbSNP: rs199473573
rs199473573
SCN5A
0.925 0.120 3 38604007 missense variant A/C snv 1.6E-05 7.0E-06
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 1.000 20 1998 2016
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: rs199473156
rs199473156
SCN5A
1.000 0.080 3 38587545 missense variant A/C;G snv
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 1.000 21 1998 2016
dbSNP: rs199473256
rs199473256
SCN5A
1.000 0.120 3 38556460 missense variant A/C;G snv
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.700 1.000 20 1995 2015
dbSNP: rs199473291
rs199473291
SCN5A
1.000 0.120 3 38551417 missense variant A/C;G snv
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.700 1.000 20 1995 2015
dbSNP: rs199473144
rs199473144
SCN5A
1.000 0.080 3 38597944 missense variant A/C;G;T snv 4.0E-06
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 1.000 21 1998 2016
dbSNP: rs199473639
rs199473639
SCN5A
1.000 0.080 3 38550469 missense variant A/C;G;T snv 1.6E-05; 4.1E-06; 4.1E-06
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 1.000 21 1998 2016
dbSNP: rs41311117
rs41311117
SCN5A
0.882 0.120 3 38550362 missense variant A/C;G;T snv 3.6E-05; 2.0E-03; 1.0E-05
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 1.000 21 1998 2016
dbSNP: rs41311117
rs41311117
SCN5A
0.882 0.120 3 38550362 missense variant A/C;G;T snv 3.6E-05; 2.0E-03; 1.0E-05
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.700 1.000 20 1995 2015
dbSNP: rs137854615
rs137854615
SCN5A
0.851 0.120 3 38550989 missense variant A/G snv
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.800 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: rs199473066
rs199473066
SCN5A
1.000 0.080 3 38620910 missense variant A/G snv
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 1.000 21 1998 2016
dbSNP: rs199473103
rs199473103
SCN5A
0.925 0.120 3 38606102 missense variant A/G snv
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 1.000 21 1998 2016
dbSNP: rs199473164
rs199473164
SCN5A
1.000 0.080 3 38585962 missense variant A/G snv
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 1.000 21 1998 2016
dbSNP: rs199473178
rs199473178
SCN5A
1.000 0.080 3 38585695 missense variant A/G snv
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 1.000 21 1998 2016