rs121909326, 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 13235219 missense variant A/G snv 0.700 1.000 1 2004 2004
Hemiplegic migraine, familial type 1
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
37 0.882 0.160 19 13235219 missense variant A/G snv 0.700 0
Spinocerebellar Ataxia Type 6 (disorder)
CUI: C0752124
Disease: Spinocerebellar Ataxia Type 6 (disorder)
11 0.882 0.160 19 13235219 missense variant A/G snv 0.700 0