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: 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: rs606231435
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 27 1988 2017
dbSNP: rs606231435
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.700 1.000 2 2015 2017
dbSNP: rs606231435
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		0.700 0
dbSNP: rs606231435
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs606231435
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		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: 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: rs606231435
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv
CUI: C0040822
Disease: Tremor
Tremor 		0.700 0
dbSNP: rs606231435
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv
CUI: C1859236
Disease: Prolonged neonatal jaundice
Prolonged neonatal jaundice 		0.700 0
dbSNP: rs606231435
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 0
dbSNP: rs606231435
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv
CUI: C1832466
Disease: CAPOS syndrome
CAPOS syndrome 		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: C0018681
Disease: Headache
Headache 		0.700 0
dbSNP: rs606231435
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.700 0
dbSNP: rs606231435
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.700 0