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: rs80356537
rs80356537
ATP1A3
0.752 0.320 19 41970405 missense variant C/A;G;T snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.810 1.000 10 2004 2016
dbSNP: rs80356537
rs80356537
ATP1A3
0.752 0.320 19 41970405 missense variant C/A;G;T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 5 2012 2016
dbSNP: rs80356537
rs80356537
ATP1A3
0.752 0.320 19 41970405 missense variant C/A;G;T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 27 1988 2017
dbSNP: rs80356537
rs80356537
ATP1A3
0.752 0.320 19 41970405 missense variant C/A;G;T snv
CUI: C1832466
Disease: CAPOS syndrome
CAPOS syndrome 		0.700 0
dbSNP: rs80356537
rs80356537
ATP1A3
0.752 0.320 19 41970405 missense variant C/A;G;T snv
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 0
dbSNP: rs80356537
rs80356537
ATP1A3
0.752 0.320 19 41970405 missense variant C/A;G;T snv
CUI: C0270790
Disease: Quadriparesis
Quadriparesis 		0.700 0
dbSNP: rs80356537
rs80356537
ATP1A3
0.752 0.320 19 41970405 missense variant C/A;G;T snv
CUI: C0085637
Disease: Oculogyric crisis
Oculogyric crisis 		0.700 0