rs17183814, SCN2A

N. diseases: 7
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.
Bipolar Disorder
CUI: C0005586
Disease: Bipolar Disorder
839 0.827 0.120 2 165295879 splice acceptor variant G/A snv 8.4E-02 6.2E-02 0.700 1.000 1 2019 2019
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.827 0.120 2 165295879 splice acceptor variant G/A snv 8.4E-02 6.2E-02 0.020 1.000 2 2009 2019
Epilepsies, Partial
CUI: C0014547
Disease: Epilepsies, Partial
23 0.827 0.120 2 165295879 splice acceptor variant G/A snv 8.4E-02 6.2E-02 0.010 1.000 1 2019 2019
Febrile Convulsions
CUI: C0009952
Disease: Febrile Convulsions
65 0.827 0.120 2 165295879 splice acceptor variant G/A snv 8.4E-02 6.2E-02 0.010 1.000 1 2002 2002
Generalized Epilepsy with Febrile Seizures Plus
CUI: C3502809
Disease: Generalized Epilepsy with Febrile Seizures Plus
13 0.827 0.120 2 165295879 splice acceptor variant G/A snv 8.4E-02 6.2E-02 0.010 1.000 1 2002 2002
Peripheral Nervous System Diseases
CUI: C4721453
Disease: Peripheral Nervous System Diseases
69 0.827 0.120 2 165295879 splice acceptor variant G/A snv 8.4E-02 6.2E-02 0.010 1.000 1 2009 2009
Peripheral Neuropathy
CUI: C0031117
Disease: Peripheral Neuropathy
81 0.827 0.120 2 165295879 splice acceptor variant G/A snv 8.4E-02 6.2E-02 0.010 1.000 1 2009 2009