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: rs121908215
rs121908215
0.882 0.160 19 13359707 missense variant C/T snv
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder)
0.800 1.000 15 1996 2011
dbSNP: rs121908215
rs121908215
0.882 0.160 19 13359707 missense variant C/T snv
Spinocerebellar Ataxia Type 6 (disorder)
0.800 1.000 8 1997 2017
dbSNP: rs121908215
rs121908215
0.882 0.160 19 13359707 missense variant C/T snv
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia
0.010 1.000 1 2005 2005