Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434578
rs121434578
ABAT
0.800 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317

2013
dbSNP: rs121434578
rs121434578
ABAT
A 0.800 CausalMutation CLINVAR A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy. 20052547

2010
dbSNP: rs121434578
rs121434578
ABAT
0.800 GeneticVariation UNIPROT 4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency. 10407778

1999