rs137854612, SCN5A

N. diseases: 4
Source: ALL
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 0.851 0.120 3 38560170 missense variant C/T snv 0.800 1.000 25 1998 2017
SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE
CUI: C1837845
Disease: SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE
10 0.851 0.120 3 38560170 missense variant C/T snv 0.800 1.000 3 2001 2012
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
201 0.851 0.120 3 38560170 missense variant C/T snv 0.700 0
CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)
CUI: C2748542
Disease: CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)
4 0.851 0.120 3 38560170 missense variant C/T snv 0.700 0