rs1057516032, ATP1A3

N. diseases: 4
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 1.000 19 41970211 protein altering variant AGTCT/GA delins 0.700 1.000 1 2016 2016
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 1.000 19 41970211 protein altering variant AGTCT/GA delins 0.700 1.000 1 2016 2016
Seizures
CUI: C0036572
Disease: Seizures
553 1.000 19 41970211 protein altering variant AGTCT/GA delins 0.700 1.000 1 2016 2016
Stroke-like episode
CUI: C1857287
Disease: Stroke-like episode
3 1.000 19 41970211 protein altering variant AGTCT/GA delins 0.700 1.000 1 2016 2016