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: 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: rs606231434
rs606231434
ATP1A3
1.000 19 41970542 missense variant C/G snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.700 0
dbSNP: rs606231435
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.700 0
dbSNP: rs606231436
rs606231436
ATP1A3
0.882 0.080 19 41970536 missense variant A/G snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.700 0
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: rs606231438
rs606231438
ATP1A3
1.000 19 41970395 missense variant G/A snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.700 0
dbSNP: rs606231439
rs606231439
ATP1A3
1.000 19 41970391 missense variant G/C snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.700 0
dbSNP: rs606231440
rs606231440
ATP1A3
1.000 19 41970299 missense variant T/A;C snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.700 0
dbSNP: rs606231441
rs606231441
ATP1A3
1.000 19 41970184 splice donor variant C/T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.700 0
dbSNP: rs606231442
rs606231442
ATP1A3
0.925 0.040 19 41969523 missense variant C/T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.700 0
dbSNP: rs606231444
rs606231444
ATP1A3
1.000 19 41968824 missense variant C/A;T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.700 0
dbSNP: rs606231445
rs606231445
ATP1A3
1.000 19 41968823 missense variant G/A;C snv 4.0E-06
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.700 0
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: rs782175860
rs782175860
ATP1A3
0.925 19 41975776 missense variant C/T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.700 0
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: rs879255368
rs879255368
ATP1A3
19 41984953 missense variant C/G;T snv
CUI: C0003578
Disease: Apnea
Apnea 		0.700 0
dbSNP: rs606231435
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv
CUI: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular 		0.700 0
dbSNP: rs606231435
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv
CUI: C0427190
Disease: Ataxia, Truncal
Ataxia, Truncal 		0.700 0
dbSNP: rs606231435
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		0.700 0
dbSNP: rs1064797245
rs1064797245
ATP1A3
0.776 0.280 19 41970540 missense variant G/A snv
CUI: C1832466
Disease: CAPOS syndrome
CAPOS syndrome 		0.710 1.000 4 2015 2018
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: rs387907281
rs387907281
ATP1A3
0.752 0.280 19 41970284 missense variant C/T snv
CUI: C1832466
Disease: CAPOS syndrome
CAPOS syndrome 		0.700 0