rs137853208, FIGNL1;DDC

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.
Deficiency of aromatic-L-amino-acid decarboxylase
CUI: C1291564
Disease: Deficiency of aromatic-L-amino-acid decarboxylase
16 0.925 0.080 7 50504025 missense variant G/A snv 0.800 1.000 2 2004 2004
Abnormal behavior
CUI: C0233514
Disease: Abnormal behavior
121 0.925 0.080 7 50504025 missense variant G/A snv 0.010 1.000 1 2018 2018
Aromatic amino acid decarboxylase deficiency
CUI: C0342686
Disease: Aromatic amino acid decarboxylase deficiency
7 0.925 0.080 7 50504025 missense variant G/A snv 0.010 1.000 1 2013 2013