rs12720452, SCN5A

N. diseases: 5
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.
Death in early adulthood
CUI: C4022012
Disease: Death in early adulthood
2 0.882 0.120 3 38603758 missense variant C/T snv 2.9E-04 2.9E-04 0.700 1.000 1 2016 2016
Death in infancy
CUI: C1858430
Disease: Death in infancy
7 0.882 0.120 3 38603758 missense variant C/T snv 2.9E-04 2.9E-04 0.700 1.000 1 2016 2016
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
234 0.882 0.120 3 38603758 missense variant C/T snv 2.9E-04 2.9E-04 0.700 0
LONG QT SYNDROME 3
CUI: C1859062
Disease: LONG QT SYNDROME 3
157 0.882 0.120 3 38603758 missense variant C/T snv 2.9E-04 2.9E-04 0.700 0
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
349 0.882 0.120 3 38603758 missense variant C/T snv 2.9E-04 2.9E-04 0.010 1 2008 2008