rs606231435, ATP1A3

N. diseases: 18
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.827 0.240 19 41970539 missense variant C/T snv 0.720 1.000 2 2012 2018
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 0.827 0.240 19 41970539 missense variant C/T snv 0.700 1.000 27 1988 2017
DYSTONIA 12
CUI: C1868681
Disease: DYSTONIA 12
25 0.827 0.240 19 41970539 missense variant C/T snv 0.700 1.000 2 2015 2017
Abdominal Pain
CUI: C0000737
Disease: Abdominal Pain
18 0.827 0.240 19 41970539 missense variant C/T snv 0.700 0
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
38 0.827 0.240 19 41970539 missense variant C/T snv 0.700 0
Ataxia, Appendicular
CUI: C0750937
Disease: Ataxia, Appendicular
5 0.827 0.240 19 41970539 missense variant C/T snv 0.700 0
Ataxia, Truncal
CUI: C0427190
Disease: Ataxia, Truncal
13 0.827 0.240 19 41970539 missense variant C/T snv 0.700 0
Cafe-au-Lait Spots
CUI: C0221263
Disease: Cafe-au-Lait Spots
32 0.827 0.240 19 41970539 missense variant C/T snv 0.700 0
CAPOS syndrome
CUI: C1832466
Disease: CAPOS syndrome
11 0.827 0.240 19 41970539 missense variant C/T snv 0.700 0
Cerebellar Dysmetria
CUI: C0234162
Disease: Cerebellar Dysmetria
17 0.827 0.240 19 41970539 missense variant C/T snv 0.700 0
Cerebral Palsy
CUI: C0007789
Disease: Cerebral Palsy
69 0.827 0.240 19 41970539 missense variant C/T snv 0.700 0
Febrile Convulsions
CUI: C0009952
Disease: Febrile Convulsions
65 0.827 0.240 19 41970539 missense variant C/T snv 0.700 0
Headache
CUI: C0018681
Disease: Headache
75 0.827 0.240 19 41970539 missense variant C/T snv 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.827 0.240 19 41970539 missense variant C/T snv 0.700 0
Prolonged neonatal jaundice
CUI: C1859236
Disease: Prolonged neonatal jaundice
14 0.827 0.240 19 41970539 missense variant C/T snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.827 0.240 19 41970539 missense variant C/T snv 0.700 0
Tremor
CUI: C0040822
Disease: Tremor
52 0.827 0.240 19 41970539 missense variant C/T snv 0.700 0
Ataxia
CUI: C0004134
Disease: Ataxia
68 0.827 0.240 19 41970539 missense variant C/T snv 0.010 1.000 1 2012 2012