Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121909323
rs121909323
CACNA1A
0.790 0.160 19 13277122 stop gained G/A snv
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		0.700 1.000 1 2015 2015
dbSNP: rs121909323
rs121909323
CACNA1A
0.790 0.160 19 13277122 stop gained G/A snv
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs121909323
rs121909323
CACNA1A
0.790 0.160 19 13277122 stop gained G/A snv
CUI: C0683322
Disease: Mental impairment
Mental impairment 		0.700 1.000 1 2015 2015
dbSNP: rs121909323
rs121909323
CACNA1A
0.790 0.160 19 13277122 stop gained G/A snv
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia 		0.700 1.000 1 2015 2015
dbSNP: rs121909323
rs121909323
CACNA1A
0.790 0.160 19 13277122 stop gained G/A snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 1.000 1 2015 2015
dbSNP: rs121909323
rs121909323
CACNA1A
0.790 0.160 19 13277122 stop gained G/A snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 1.000 1 2015 2015
dbSNP: rs121909323
rs121909323
CACNA1A
0.790 0.160 19 13277122 stop gained G/A snv
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.700 1.000 1 2015 2015
dbSNP: rs121909323
rs121909323
CACNA1A
0.790 0.160 19 13277122 stop gained G/A snv
CUI: C0585544
Disease: Downbeat nystagmus
Downbeat nystagmus 		0.700 1.000 1 2015 2015