rs80356537, ATP1A3

N. diseases: 17
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.
DYSTONIA 12
CUI: C1868681
Disease: DYSTONIA 12
25 0.752 0.320 19 41970405 missense variant C/A;G;T snv 0.810 1.000 14 2004 2016
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
38 0.752 0.320 19 41970405 missense variant C/A;G;T snv 0.800 1.000 6 2012 2016
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.752 0.320 19 41970405 missense variant C/A;G;T snv 0.700 1.000 27 1988 2017
CAPOS syndrome
CUI: C1832466
Disease: CAPOS syndrome
11 0.752 0.320 19 41970405 missense variant C/A;G;T snv 0.700 0
Dystonia
CUI: C0013421
Disease: Dystonia
97 0.752 0.320 19 41970405 missense variant C/A;G;T snv 0.700 0
Oculogyric crisis
CUI: C0085637
Disease: Oculogyric crisis
3 0.752 0.320 19 41970405 missense variant C/A;G;T snv 0.700 0
Quadriparesis
CUI: C0270790
Disease: Quadriparesis
5 0.752 0.320 19 41970405 missense variant C/A;G;T snv 0.700 0
Congenital hypoplasia of adrenal gland
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
13 0.752 0.320 19 41970405 missense variant C/A;G;T snv 0.030 1.000 3 2015 2016
X-linked Adrenal Hypoplasia
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
70 0.752 0.320 19 41970405 missense variant C/A;G;T snv 0.030 1.000 3 2015 2016
Alternating hemiplegia of childhood
CUI: C0338488
Disease: Alternating hemiplegia of childhood
4 0.752 0.320 19 41970405 missense variant C/A;G;T snv 0.010 1.000 1 2015 2015
Cognition Disorders
CUI: C0009241
Disease: Cognition Disorders
47 0.752 0.320 19 41970405 missense variant C/A;G;T snv 0.010 1.000 1 2016 2016
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.752 0.320 19 41970405 missense variant C/A;G;T snv 0.010 1.000 1 2016 2016
Epileptic Seizures
CUI: C4317109
Disease: Epileptic Seizures
7 0.752 0.320 19 41970405 missense variant C/A;G;T snv 0.010 1.000 1 2016 2016
Hemiplegia, Crossed
CUI: C0278110
Disease: Hemiplegia, Crossed
2 0.752 0.320 19 41970405 missense variant C/A;G;T snv 0.010 1.000 1 2015 2015
Hyperactive behavior
CUI: C0424295
Disease: Hyperactive behavior
112 0.752 0.320 19 41970405 missense variant C/A;G;T snv 0.010 1.000 1 2016 2016
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.752 0.320 19 41970405 missense variant C/A;G;T snv 0.010 1.000 1 2016 2016
Status Epilepticus
CUI: C0038220
Disease: Status Epilepticus
12 0.752 0.320 19 41970405 missense variant C/A;G;T snv 0.010 1.000 1 2015 2015