rs397514452, ADK

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.
HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
CUI: C3280381
Disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
3 1.000 10 74670258 missense variant C/A;T snv 8.0E-06; 4.0E-06 0.800 1.000 1 2011 2011
Abnormality of the liver
CUI: C4021780
Disease: Abnormality of the liver
8 1.000 10 74670258 missense variant C/A;T snv 8.0E-06; 4.0E-06 0.700 0
Morphological abnormality of the central nervous system
CUI: C4021765
Disease: Morphological abnormality of the central nervous system
7 1.000 10 74670258 missense variant C/A;T snv 8.0E-06; 4.0E-06 0.700 0
Neurodevelopmental abnormality
CUI: C4022737
Disease: Neurodevelopmental abnormality
19 1.000 10 74670258 missense variant C/A;T snv 8.0E-06; 4.0E-06 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 1.000 10 74670258 missense variant C/A;T snv 8.0E-06; 4.0E-06 0.700 0