rs1057520918, CACNA1A

N. diseases: 11
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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.790 0.160 19 13262780 missense variant C/T snv 0.700 1.000 46 1988 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.790 0.160 19 13262780 missense variant C/T snv 0.700 1.000 46 1988 2017
Abnormality of brain morphology
CUI: C4021085
Disease: Abnormality of brain morphology
131 0.790 0.160 19 13262780 missense variant C/T snv 0.700 0
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
CUI: C4310716
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
28 0.790 0.160 19 13262780 missense variant C/T snv 0.700 0
Episodic ataxia type 2 (disorder)
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
60 0.790 0.160 19 13262780 missense variant C/T snv 0.700 0
Hemiplegic migraine, familial type 1
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
37 0.790 0.160 19 13262780 missense variant C/T snv 0.700 0
Spinocerebellar Ataxia Type 6 (disorder)
CUI: C0752124
Disease: Spinocerebellar Ataxia Type 6 (disorder)
11 0.790 0.160 19 13262780 missense variant C/T snv 0.700 0
Ataxia
CUI: C0004134
Disease: Ataxia
68 0.790 0.160 19 13262780 missense variant C/T snv 0.010 1.000 1 2008 2008
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.790 0.160 19 13262780 missense variant C/T snv 0.010 1.000 1 2008 2008
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.790 0.160 19 13262780 missense variant C/T snv 0.010 1.000 1 2008 2008
Hemiplegic migraine
CUI: C0270862
Disease: Hemiplegic migraine
14 0.790 0.160 19 13262780 missense variant C/T snv 0.010 1.000 1 2008 2008