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
dbSNP: rs1057523345
rs1057523345
ABAT ; TMEM186
A 0.700 CausalMutation CLINVAR 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis. 31133775

2019
dbSNP: rs1567300736
rs1567300736
ABAT
A 0.700 CausalMutation CLINVAR 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis. 31133775

2019
dbSNP: rs1567310537
rs1567310537
ABAT
T 0.700 CausalMutation CLINVAR 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis. 31133775

2019
dbSNP: rs1567312671
rs1567312671
ABAT
G 0.700 CausalMutation CLINVAR 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis. 31133775

2019
dbSNP: rs724159990
rs724159990
ABAT
T 0.700 CausalMutation CLINVAR 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis. 31133775

2019
dbSNP: rs781555217
rs781555217
ABAT ; TMEM186
C 0.700 CausalMutation CLINVAR 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis. 31133775

2019
dbSNP: rs1567310537
rs1567310537
ABAT
T 0.700 CausalMutation CLINVAR Personalized medicine approach confirms a milder case of ABAT deficiency. 27903293

2016
dbSNP: rs781555217
rs781555217
ABAT ; TMEM186
C 0.700 CausalMutation CLINVAR Personalized medicine approach confirms a milder case of ABAT deficiency. 27903293

2016
dbSNP: rs724159990
rs724159990
ABAT
T 0.700 CausalMutation CLINVAR The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism. 25738457

2015
dbSNP: rs724159991
rs724159991
ABAT ; TMEM186
C 0.700 CausalMutation CLINVAR A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy. 20052547

2010
dbSNP: rs724159992
rs724159992
ABAT
A 0.700 CausalMutation CLINVAR A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy. 20052547

2010
dbSNP: rs1330995774
rs1330995774
ABAT
T 0.700 CausalMutation CLINVAR

dbSNP: rs1555492932
rs1555492932
ABAT
G 0.700 CausalMutation CLINVAR

dbSNP: rs1555494322
rs1555494322
ABAT ; TMEM186
C 0.700 CausalMutation CLINVAR