rs863224852, 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 13359680 missense variant C/T snv 0.710 1.000 1 2016 2016
Spinocerebellar Ataxia Type 6 (disorder)
11 0.882 0.160 19 13359680 missense variant C/T snv 0.700 0
Episodic Ataxia
CUI: C1720189
Disease: Episodic Ataxia
9 0.882 0.160 19 13359680 missense variant C/T snv 0.010 1.000 1 2016 2016