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: rs200891944
rs200891944
ATP1A3
19 41981976 missense variant C/A;T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 27 1988 2017