rs1064797245, ATP1A3

N. diseases: 12
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.
CAPOS syndrome
CUI: C1832466
Disease: CAPOS syndrome
11 0.776 0.280 19 41970540 missense variant G/A snv 0.710 1.000 5 2015 2018
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 0.776 0.280 19 41970540 missense variant G/A snv 0.700 1.000 27 1988 2017
DYSTONIA 12
CUI: C1868681
Disease: DYSTONIA 12
25 0.776 0.280 19 41970540 missense variant G/A snv 0.700 1.000 6 2015 2018
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
38 0.776 0.280 19 41970540 missense variant G/A snv 0.700 1.000 4 2015 2017
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.776 0.280 19 41970540 missense variant G/A snv 0.020 1.000 2 2017 2018
Encephalopathies
CUI: C0085584
Disease: Encephalopathies
64 0.776 0.280 19 41970540 missense variant G/A snv 0.020 1.000 2 2017 2018
Alternating hemiplegia of childhood
CUI: C0338488
Disease: Alternating hemiplegia of childhood
4 0.776 0.280 19 41970540 missense variant G/A snv 0.010 1.000 1 2016 2016
Choreoathetosis
CUI: C0085583
Disease: Choreoathetosis
9 0.776 0.280 19 41970540 missense variant G/A snv 0.010 1.000 1 2016 2016
Congenital hypoplasia of adrenal gland
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
13 0.776 0.280 19 41970540 missense variant G/A snv 0.010 1.000 1 2016 2016
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.776 0.280 19 41970540 missense variant G/A snv 0.010 1.000 1 2017 2017
Fever
CUI: C0015967
Disease: Fever
66 0.776 0.280 19 41970540 missense variant G/A snv 0.010 1.000 1 2018 2018
X-linked Adrenal Hypoplasia
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
70 0.776 0.280 19 41970540 missense variant G/A snv 0.010 1.000 1 2016 2016