rs1064794243, SCN4A

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.
Paramyotonia Congenita (disorder)
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
26 0.851 0.200 17 63941169 missense variant A/T snv 0.700 0
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
201 0.851 0.200 17 63941169 missense variant A/T snv 0.010 1.000 1 2005 2005
Generalized Epilepsy with Febrile Seizures Plus
CUI: C3502809
Disease: Generalized Epilepsy with Febrile Seizures Plus
13 0.851 0.200 17 63941169 missense variant A/T snv 0.010 1.000 1 2005 2005
Heart Diseases
CUI: C0018799
Disease: Heart Diseases
45 0.851 0.200 17 63941169 missense variant A/T snv 0.010 1.000 1 2005 2005
Long QT syndrome type 3
CUI: C2931401
Disease: Long QT syndrome type 3
3 0.851 0.200 17 63941169 missense variant A/T snv 0.010 1.000 1 2005 2005