Source: CLINVAR

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: rs80356533
rs80356533
ATP1A3
1.000 0.040 19 41985082 missense variant C/T snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.800 1.000 3 2004 2010