Source: ALL

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: rs886037945
rs886037945
CACNA1A
0.827 0.160 19 13303584 missense variant C/T snv
CUI: C4310716
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		0.800 1.000 3 2013 2016
dbSNP: rs886037945
rs886037945
CACNA1A
0.827 0.160 19 13303584 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 46 1988 2017
dbSNP: rs886037945
rs886037945
CACNA1A
0.827 0.160 19 13303584 missense variant C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 46 1988 2017
dbSNP: rs886037945
rs886037945
CACNA1A
0.827 0.160 19 13303584 missense variant C/T snv
CUI: C0752124
Disease: Spinocerebellar Ataxia Type 6 (disorder)
Spinocerebellar Ataxia Type 6 (disorder) 		0.700 0
dbSNP: rs886037945
rs886037945
CACNA1A
0.827 0.160 19 13303584 missense variant C/T snv
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		0.700 0
dbSNP: rs886037945
rs886037945
CACNA1A
0.827 0.160 19 13303584 missense variant C/T snv
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		0.700 0