Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434578
rs121434578
ABAT
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		A 0.700 CausalMutation CLINVAR A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy. 20052547

2010
dbSNP: rs724159990
rs724159990
ABAT
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs724159991
rs724159991
ABAT ; TMEM186
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		C 0.700 CausalMutation CLINVAR A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy. 20052547

2010
dbSNP: rs724159992
rs724159992
ABAT
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		A 0.700 CausalMutation CLINVAR A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy. 20052547

2010