Source: CLINVAR

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: rs1057518916
rs1057518916
SCN5A
3 38606034 stop gained G/A snv
CUI: C0039070
Disease: Syncope
Syncope 		0.700 0
dbSNP: rs1060501114
rs1060501114
SCN5A
1.000 0.080 3 38585842 stop gained C/T snv
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 0
dbSNP: rs1060501127
rs1060501127
SCN5A
1.000 0.080 3 38550952 frameshift variant AGTG/- delins
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 0
dbSNP: rs1060501130
rs1060501130
SCN5A
1.000 0.080 3 38585690 splice donor variant C/A snv
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 0
dbSNP: rs1060501136
rs1060501136
SCN5A
1.000 0.080 3 38609764 stop gained C/A;T snv
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 0
dbSNP: rs1060501142
rs1060501142
SCN5A
1.000 0.080 3 38633204 frameshift variant C/- delins
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 0
dbSNP: rs1060501145
rs1060501145
SCN5A
1.000 0.080 3 38550944 stop gained C/A snv
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 0
dbSNP: rs1064792926
rs1064792926
SCN5A
1.000 0.080 3 38581137 frameshift variant GGTGGCAATGCAG/- delins
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 0
dbSNP: rs1064795784
rs1064795784
SCN5A
1.000 0.080 3 38579477 frameshift variant A/- del
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 0
dbSNP: rs1131691708
rs1131691708
SCN5A
1.000 0.080 3 38633205 frameshift variant CG/- delins
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 0
dbSNP: rs1377226524
rs1377226524
SCN5A
1.000 0.080 3 38606149 splice acceptor variant C/T snv 7.0E-06
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 0
dbSNP: rs137854600
rs137854600
SCN5A
0.807 0.120 3 38551504 missense variant C/A;T snv
CUI: C3276241
Disease: LONG QT SYNDROME 3/6, DIGENIC Disorder
LONG QT SYNDROME 3/6, DIGENIC Disorder 		0.700 0
dbSNP: rs137854601
rs137854601
SCN5A
0.776 0.120 3 38551022 stop gained C/A;T snv 4.0E-06
CUI: C0428908
Disease: Sinus Node Dysfunction (disorder)
Sinus Node Dysfunction (disorder) 		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: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 0
dbSNP: rs137854606
rs137854606
SCN5A
0.882 0.120 3 38604062 missense variant C/A snv
CUI: C1861984
Disease: Cardiac Conduction Defect, Nonprogressive
Cardiac Conduction Defect, Nonprogressive 		0.700 0
dbSNP: rs137854607
rs137854607
SCN5A
0.882 0.120 3 38554309 missense variant C/G;T snv
CUI: C1832680
Disease: CARDIOMYOPATHY, DILATED, 1E
CARDIOMYOPATHY, DILATED, 1E 		0.700 0
dbSNP: rs137854612
rs137854612
SCN5A
0.851 0.120 3 38560170 missense variant C/T snv
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 0
dbSNP: rs137854612
rs137854612
SCN5A
0.851 0.120 3 38560170 missense variant C/T snv
CUI: C2748542
Disease: CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)
CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder) 		0.700 0
dbSNP: rs137854613
rs137854613
SCN5A
0.882 0.120 3 38551505 stop gained G/A;T snv
CUI: C1837845
Disease: SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE
SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs137854618
rs137854618
SCN5A
0.742 0.120 3 38566426 missense variant C/A;T snv 8.0E-06
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.700 0
dbSNP: rs137854618
rs137854618
SCN5A
0.742 0.120 3 38566426 missense variant C/A;T snv 8.0E-06
CUI: C4016652
Disease: ATRIAL STANDSTILL 1, DIGENIC
ATRIAL STANDSTILL 1, DIGENIC 		0.700 0
dbSNP: rs137854618
rs137854618
SCN5A
0.742 0.120 3 38566426 missense variant C/A;T snv 8.0E-06
CUI: C3151464
Disease: ATRIAL FIBRILLATION, FAMILIAL, 10
ATRIAL FIBRILLATION, FAMILIAL, 10 		0.700 0
dbSNP: rs137854619
rs137854619
SCN5A
0.925 0.120 3 38550917 missense variant C/T snv 2.7E-04 7.7E-05
CUI: C3276240
Disease: LONG QT SYNDROME 2/3, DIGENIC
LONG QT SYNDROME 2/3, DIGENIC 		0.700 0
dbSNP: rs137854620
rs137854620
SCN5A
1.000 0.080 3 38557268 stop gained C/T snv
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 0
dbSNP: rs1417036453
rs1417036453
SCN5A
0.925 0.080 3 38603999 stop gained G/A snv 4.0E-06
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.700 0