rs121909324, CACNA1A

N. diseases: 4
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 0.851 0.160 19 13255217 stop gained G/A snv 0.700 1.000 1 1999 1999
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
28 0.851 0.160 19 13255217 stop gained G/A snv 0.700 0
Hemiplegic migraine, familial type 1
37 0.851 0.160 19 13255217 stop gained G/A snv 0.700 0
Spinocerebellar Ataxia Type 6 (disorder)
11 0.851 0.160 19 13255217 stop gained G/A snv 0.700 0