rs387907281, ATP1A3

N. diseases: 13
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 0.280 19 41970284 missense variant C/T snv 0.710 1.000 6 2012 2018
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
38 0.752 0.280 19 41970284 missense variant C/T snv 0.700 0
CAPOS syndrome
CUI: C1832466
Disease: CAPOS syndrome
11 0.752 0.280 19 41970284 missense variant C/T snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.752 0.280 19 41970284 missense variant C/T snv 0.700 0
Hemiplegia
CUI: C0018991
Disease: Hemiplegia
6 0.752 0.280 19 41970284 missense variant C/T snv 0.700 0
Oculogyric crisis
CUI: C0085637
Disease: Oculogyric crisis
3 0.752 0.280 19 41970284 missense variant C/T snv 0.700 0
Congenital hypoplasia of adrenal gland
13 0.752 0.280 19 41970284 missense variant C/T snv 0.070 1.000 7 2013 2018
X-linked Adrenal Hypoplasia
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
70 0.752 0.280 19 41970284 missense variant C/T snv 0.070 1.000 7 2013 2018
Alternating hemiplegia of childhood
CUI: C0338488
Disease: Alternating hemiplegia of childhood
4 0.752 0.280 19 41970284 missense variant C/T snv 0.020 1.000 2 2017 2018
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.752 0.280 19 41970284 missense variant C/T snv 0.010 1.000 1 2014 2014
Hemiplegia, Crossed
CUI: C0278110
Disease: Hemiplegia, Crossed
2 0.752 0.280 19 41970284 missense variant C/T snv 0.010 1.000 1 2017 2017
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 0.752 0.280 19 41970284 missense variant C/T snv 0.010 1.000 1 2014 2014
Status Epilepticus
CUI: C0038220
Disease: Status Epilepticus
12 0.752 0.280 19 41970284 missense variant C/T snv 0.010 1.000 1 2015 2015