Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121909326
rs121909326
0.882 0.160 19 13235219 missense variant A/G snv
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder)
0.700 1.000 1 2004 2004
dbSNP: rs121909326
rs121909326
0.882 0.160 19 13235219 missense variant A/G snv
Spinocerebellar Ataxia Type 6 (disorder)
0.700 0
dbSNP: rs121909326
rs121909326
0.882 0.160 19 13235219 missense variant A/G snv
Hemiplegic migraine, familial type 1
0.700 0