rs1567300736, ABAT

N. diseases: 1
Source: CURATED ×
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.
Gamma aminobutyric acid transaminase deficiency
CUI: C0342708
Disease: Gamma aminobutyric acid transaminase deficiency
12 1.000 0.080 16 8746099 splice donor variant G/A snv 0.700 1.000 1 2019 2019