rs542652468, ATP1A3

N. diseases: 6
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 19 41986177 missense variant G/A;T snv 0.800 1.000 5 2012 2016
Abnormality of earlobe
CUI: C4021808
Disease: Abnormality of earlobe
1 0.882 19 41986177 missense variant G/A;T snv 0.700 0
Congenital Epicanthus
CUI: C0678230
Disease: Congenital Epicanthus
30 0.882 19 41986177 missense variant G/A;T snv 0.700 0
Depressed nasal bridge
CUI: C1836542
Disease: Depressed nasal bridge
39 0.882 19 41986177 missense variant G/A;T snv 0.700 0
Dilated ventricles (finding)
CUI: C3278923
Disease: Dilated ventricles (finding)
32 0.882 19 41986177 missense variant G/A;T snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.882 19 41986177 missense variant G/A;T snv 0.700 0