rs121908247, CACNA1A

N. diseases: 5
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.
Spinocerebellar Ataxia Type 6 (disorder)
CUI: C0752124
Disease: Spinocerebellar Ataxia Type 6 (disorder)
11 0.851 0.160 19 13235693 missense variant C/T snv 0.700 1.000 6 1997 2017
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
CUI: C4310716
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
28 0.851 0.160 19 13235693 missense variant C/T snv 0.700 1.000 2 2006 2017
Episodic ataxia type 2 (disorder)
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
60 0.851 0.160 19 13235693 missense variant C/T snv 0.700 1.000 2 2006 2017
Enlarged cisterna magna
CUI: C1853377
Disease: Enlarged cisterna magna
4 0.851 0.160 19 13235693 missense variant C/T snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.851 0.160 19 13235693 missense variant C/T snv 0.700 0