rs121908215, CACNA1A

N. diseases: 3
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.
Episodic ataxia type 2 (disorder)
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
60 0.882 0.160 19 13359707 missense variant C/T snv 0.800 1.000 15 1996 2011
Spinocerebellar Ataxia Type 6 (disorder)
CUI: C0752124
Disease: Spinocerebellar Ataxia Type 6 (disorder)
11 0.882 0.160 19 13359707 missense variant C/T snv 0.800 1.000 8 1997 2017
Progressive cerebellar ataxia
CUI: C0393525
Disease: Progressive cerebellar ataxia
23 0.882 0.160 19 13359707 missense variant C/T snv 0.010 1.000 1 2005 2005