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: rs45546039
rs45546039
0.732 0.120 3 38613781 missense variant C/A;T snv 4.1E-06
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1
0.800 1.000 0 1998 2016
dbSNP: rs45546039
rs45546039
0.732 0.120 3 38613781 missense variant C/A;T snv 4.1E-06
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3
0.800 1.000 0 1995 2015
dbSNP: rs45546039
rs45546039
0.732 0.120 3 38613781 missense variant C/A;T snv 4.1E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.710 1.000 9 2008 2012
dbSNP: rs45546039
rs45546039
0.732 0.120 3 38613781 missense variant C/A;T snv 4.1E-06
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
0.700 1.000 10 2005 2015
dbSNP: rs45546039
rs45546039
0.732 0.120 3 38613781 missense variant C/A;T snv 4.1E-06
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome
0.700 0
dbSNP: rs45546039
rs45546039
0.732 0.120 3 38613781 missense variant C/A;T snv 4.1E-06
SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE
0.700 0
dbSNP: rs45546039
rs45546039
0.732 0.120 3 38613781 missense variant C/A;T snv 4.1E-06
CUI: C3151464
Disease: ATRIAL FIBRILLATION, FAMILIAL, 10
ATRIAL FIBRILLATION, FAMILIAL, 10
0.700 0
dbSNP: rs45546039
rs45546039
0.732 0.120 3 38613781 missense variant C/A;T snv 4.1E-06
Ventricular Fibrillation, Paroxysmal Familial, 1
0.700 0
dbSNP: rs45546039
rs45546039
0.732 0.120 3 38613781 missense variant C/A;T snv 4.1E-06
Hereditary bundle branch system defect
0.700 0
dbSNP: rs45546039
rs45546039
0.732 0.120 3 38613781 missense variant C/A;T snv 4.1E-06
CUI: C1832680
Disease: CARDIOMYOPATHY, DILATED, 1E
CARDIOMYOPATHY, DILATED, 1E
0.700 0