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: rs80356532
rs80356532
ATP1A3
0.925 0.040 19 41985090 missense variant A/G;T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 0 2012 2016
dbSNP: rs80356532
rs80356532
ATP1A3
0.925 0.040 19 41985090 missense variant A/G;T snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.800 1.000 0 2004 2009