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: rs587777771
rs587777771
ATP1A3
0.851 0.240 19 41970275 missense variant C/T snv
CUI: C1832466
Disease: CAPOS syndrome
CAPOS syndrome 		0.870 1.000 0 2014 2019
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
dbSNP: rs398122887
rs398122887
ATP1A3
0.790 0.280 19 41967744 missense variant C/G;T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 0 2012 2016
dbSNP: rs534926223
rs534926223
ATP1A3
1.000 19 41970490 missense variant G/C;T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 0 2012 2016
dbSNP: rs536681257
rs536681257
ATP1A3
0.882 0.080 19 41970298 missense variant A/C;T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 0 2012 2016
dbSNP: rs542652468
rs542652468
ATP1A3
0.882 19 41986177 missense variant G/A;T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 0 2012 2016
dbSNP: rs549006436
rs549006436
ATP1A3
0.925 0.040 19 41970389 missense variant A/C;T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 0 2012 2016
dbSNP: rs557052809
rs557052809
ATP1A3
0.827 0.160 19 41975629 missense variant C/A;T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 0 2012 2016
dbSNP: rs606231427
rs606231427
ATP1A3
1.000 19 41986168 missense variant T/A snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 0 2012 2016
dbSNP: rs606231428
rs606231428
ATP1A3
1.000 19 41984946 missense variant A/T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 0 2012 2016
dbSNP: rs606231430
rs606231430
ATP1A3
1.000 19 41982102 missense variant C/A snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 0 2012 2016
dbSNP: rs606231433
rs606231433
ATP1A3
1.000 19 41981988 missense variant A/G snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 0 2012 2016
dbSNP: rs606231437
rs606231437
ATP1A3
1.000 19 41970488 missense variant T/A;C snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 0 2012 2016
dbSNP: rs606231446
rs606231446
ATP1A3
1.000 19 41967719 missense variant G/T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 0 2012 2016
dbSNP: rs606231447
rs606231447
ATP1A3
1.000 19 41967288 missense variant C/A;G;T snv 4.0E-06
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
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: rs80356536
rs80356536
ATP1A3
1.000 0.040 19 41970468 missense variant A/G snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.800 1.000 0 2004 2009
dbSNP: rs606231435
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.720 1.000 0 2012 2018
dbSNP: rs1131691940
rs1131691940
ATP1A3
1.000 19 41982096 missense variant G/A;T snv 8.0E-06
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.700 0
dbSNP: rs1135401821
rs1135401821
ATP1A3
1.000 0.240 19 41986127 missense variant T/C snv
CUI: C1832466
Disease: CAPOS syndrome
CAPOS syndrome 		0.700 0
dbSNP: rs1135401822
rs1135401822
ATP1A3
1.000 0.240 19 41975668 missense variant C/A snv
CUI: C1832466
Disease: CAPOS syndrome
CAPOS syndrome 		0.700 0
dbSNP: rs267606670
rs267606670
ATP1A3
0.790 0.320 19 41968837 missense variant C/A;T snv
CUI: C1832466
Disease: CAPOS syndrome
CAPOS syndrome 		0.700 0
dbSNP: rs267606670
rs267606670
ATP1A3
0.790 0.320 19 41968837 missense variant C/A;T snv
CUI: C4022010
Disease: Maternal seizures
Maternal seizures 		0.700 0
dbSNP: rs267606670
rs267606670
ATP1A3
0.790 0.320 19 41968837 missense variant C/A;T snv
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.700 0