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: rs80356534
rs80356534
ATP1A3
0.925 0.040 19 41978041 missense variant G/A snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.800 1.000 6 2004 2014