Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs724159991
rs724159991
ABAT ; TMEM186
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		C 0.700 CausalMutation CLINVAR A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy. 20052547

2010