Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs724159990
rs724159990
ABAT
1.000 0.080 16 8768220 missense variant C/T snv
CUI: C0342708
Disease: Gamma aminobutyric acid transaminase deficiency
Gamma aminobutyric acid transaminase deficiency 		0.700 1.000 2 2015 2019
dbSNP: rs724159990
rs724159990
ABAT
1.000 0.080 16 8768220 missense variant C/T snv
CUI: C2674422
Disease: Seizures, intractable
Seizures, intractable 		0.700 0
dbSNP: rs724159990
rs724159990
ABAT
1.000 0.080 16 8768220 missense variant C/T snv
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.700 0
dbSNP: rs724159990
rs724159990
ABAT
1.000 0.080 16 8768220 missense variant C/T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs724159990
rs724159990
ABAT
1.000 0.080 16 8768220 missense variant C/T snv
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.700 0