rs398122887, ATP1A3

N. diseases: 8
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.
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
38 0.790 0.280 19 41967744 missense variant C/G;T snv 0.800 1.000 5 2012 2016
DYSTONIA 12
CUI: C1868681
Disease: DYSTONIA 12
25 0.790 0.280 19 41967744 missense variant C/G;T snv 0.700 1.000 6 2012 2015
CAPOS syndrome
CUI: C1832466
Disease: CAPOS syndrome
11 0.790 0.280 19 41967744 missense variant C/G;T snv 0.700 0
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.790 0.280 19 41967744 missense variant C/G;T snv 0.700 0
Hemiplegia
CUI: C0018991
Disease: Hemiplegia
6 0.790 0.280 19 41967744 missense variant C/G;T snv 0.700 0
Congenital hypoplasia of adrenal gland
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
13 0.790 0.280 19 41967744 missense variant C/G;T snv 0.030 1.000 3 2014 2018
X-linked Adrenal Hypoplasia
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
70 0.790 0.280 19 41967744 missense variant C/G;T snv 0.030 1.000 3 2014 2018
Status Epilepticus
CUI: C0038220
Disease: Status Epilepticus
12 0.790 0.280 19 41967744 missense variant C/G;T snv 0.010 1.000 1 2015 2015