rs536681257, ATP1A3

N. diseases: 3
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 0.882 0.080 19 41970298 missense variant A/C;T snv 0.800 1.000 5 2012 2016
Congenital hypoplasia of adrenal gland
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
13 0.882 0.080 19 41970298 missense variant A/C;T snv 0.020 1.000 2 2013 2016
X-linked Adrenal Hypoplasia
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
70 0.882 0.080 19 41970298 missense variant A/C;T snv 0.020 1.000 2 2013 2016