Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs781555217
rs781555217
ABAT ; TMEM186
CUI: C0342708
Disease: Gamma aminobutyric acid transaminase deficiency
Gamma aminobutyric acid transaminase deficiency 		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: rs781555217
rs781555217
ABAT ; TMEM186
CUI: C0342708
Disease: Gamma aminobutyric acid transaminase deficiency
Gamma aminobutyric acid transaminase deficiency 		C 0.700 CausalMutation CLINVAR Personalized medicine approach confirms a milder case of ABAT deficiency. 27903293

2016