rs199473097, SCN5A

N. diseases: 9
Source: CURATED ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
234 0.763 0.120 3 38606710 missense variant G/A snv 8.0E-06 7.0E-06 0.800 1.000 21 1998 2016
LONG QT SYNDROME 3
CUI: C1859062
Disease: LONG QT SYNDROME 3
153 0.763 0.120 3 38606710 missense variant G/A snv 8.0E-06 7.0E-06 0.800 1.000 20 1995 2015
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
118 0.763 0.120 3 38606710 missense variant G/A snv 8.0E-06 7.0E-06 0.700 1.000 6 2002 2017
ATRIAL FIBRILLATION, FAMILIAL, 10
CUI: C3151464
Disease: ATRIAL FIBRILLATION, FAMILIAL, 10
17 0.763 0.120 3 38606710 missense variant G/A snv 8.0E-06 7.0E-06 0.700 0
CARDIOMYOPATHY, DILATED, 1E
CUI: C1832680
Disease: CARDIOMYOPATHY, DILATED, 1E
11 0.763 0.120 3 38606710 missense variant G/A snv 8.0E-06 7.0E-06 0.700 0
Hereditary bundle branch system defect
CUI: C1879286
Disease: Hereditary bundle branch system defect
16 0.763 0.120 3 38606710 missense variant G/A snv 8.0E-06 7.0E-06 0.700 0
SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE
CUI: C1837845
Disease: SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE
10 0.763 0.120 3 38606710 missense variant G/A snv 8.0E-06 7.0E-06 0.700 0
Sudden infant death syndrome
CUI: C0038644
Disease: Sudden infant death syndrome
13 0.763 0.120 3 38606710 missense variant G/A snv 8.0E-06 7.0E-06 0.700 0
Ventricular Fibrillation, Paroxysmal Familial, 1
CUI: C2751898
Disease: Ventricular Fibrillation, Paroxysmal Familial, 1
4 0.763 0.120 3 38606710 missense variant G/A snv 8.0E-06 7.0E-06 0.700 0