rs121909323, CACNA1A

N. diseases: 8
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.
Attention deficit hyperactivity disorder
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
420 0.790 0.160 19 13277122 stop gained G/A snv 0.700 1.000 1 2015 2015
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
395 0.790 0.160 19 13277122 stop gained G/A snv 0.700 1.000 1 2015 2015
Downbeat nystagmus
CUI: C0585544
Disease: Downbeat nystagmus
2 0.790 0.160 19 13277122 stop gained G/A snv 0.700 1.000 1 2015 2015
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
126 0.790 0.160 19 13277122 stop gained G/A snv 0.700 1.000 1 2015 2015
Episodic Ataxia
CUI: C1720189
Disease: Episodic Ataxia
9 0.790 0.160 19 13277122 stop gained G/A snv 0.700 1.000 1 2015 2015
Episodic ataxia type 2 (disorder)
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
60 0.790 0.160 19 13277122 stop gained G/A snv 0.700 1.000 1 2015 2015
Febrile Convulsions
CUI: C0009952
Disease: Febrile Convulsions
65 0.790 0.160 19 13277122 stop gained G/A snv 0.700 1.000 1 2015 2015
Mental impairment
CUI: C0683322
Disease: Mental impairment
14 0.790 0.160 19 13277122 stop gained G/A snv 0.700 1.000 1 2015 2015