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: rs80356535
rs80356535
ATP1A3
1.000 0.040 19 41970533 missense variant A/C snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.810 1.000 0 2004 2014