rs886037945, CACNA1A

N. diseases: 6
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.
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
CUI: C4310716
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
28 0.827 0.160 19 13303584 missense variant C/T snv 0.800 1.000 3 2013 2016
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.827 0.160 19 13303584 missense variant C/T snv 0.700 1.000 46 1988 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.827 0.160 19 13303584 missense variant C/T snv 0.700 1.000 46 1988 2017
Episodic ataxia type 2 (disorder)
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
60 0.827 0.160 19 13303584 missense variant C/T snv 0.700 0
Hemiplegic migraine, familial type 1
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
37 0.827 0.160 19 13303584 missense variant C/T snv 0.700 0
Spinocerebellar Ataxia Type 6 (disorder)
CUI: C0752124
Disease: Spinocerebellar Ataxia Type 6 (disorder)
11 0.827 0.160 19 13303584 missense variant C/T snv 0.700 0