rs557052809, ATP1A3

N. diseases: 5
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 0.827 0.160 19 41975629 missense variant C/A;T snv 0.800 1.000 5 2012 2016
DYSTONIA 12
CUI: C1868681
Disease: DYSTONIA 12
25 0.827 0.160 19 41975629 missense variant C/A;T snv 0.700 1.000 3 2012 2014
Alternating hemiplegia of childhood
CUI: C0338488
Disease: Alternating hemiplegia of childhood
4 0.827 0.160 19 41975629 missense variant C/A;T snv 0.010 1.000 1 2018 2018
Congenital hypoplasia of adrenal gland
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
13 0.827 0.160 19 41975629 missense variant C/A;T snv 0.010 1.000 1 2018 2018
X-linked Adrenal Hypoplasia
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
70 0.827 0.160 19 41975629 missense variant C/A;T snv 0.010 1.000 1 2018 2018