Source: CURATED

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: rs724159992
rs724159992
ABAT
1.000 0.080 16 8750498 missense variant G/A snv 1.4E-05
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.700 1.000 1 2010 2010
dbSNP: rs724159992
rs724159992
ABAT
1.000 0.080 16 8750498 missense variant G/A snv 1.4E-05
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 1.000 1 2010 2010
dbSNP: rs724159992
rs724159992
ABAT
1.000 0.080 16 8750498 missense variant G/A snv 1.4E-05
CUI: C2674422
Disease: Seizures, intractable
Seizures, intractable 		0.700 1.000 1 2010 2010
dbSNP: rs1555492932
rs1555492932
ABAT
1.000 0.080 16 8772778 splice acceptor variant A/G snv
CUI: C0342708
Disease: Gamma aminobutyric acid transaminase deficiency
Gamma aminobutyric acid transaminase deficiency 		0.700 0
dbSNP: rs1555494322
rs1555494322
ABAT ; TMEM186
1.000 0.080 16 8781387 missense variant T/C snv
CUI: C0342708
Disease: Gamma aminobutyric acid transaminase deficiency
Gamma aminobutyric acid transaminase deficiency 		0.700 0
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: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		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: rs781555217
rs781555217
ABAT ; TMEM186
1.000 0.080 16 8781320 stop gained G/A;C;T snv 4.0E-06; 4.0E-06
CUI: C0342708
Disease: Gamma aminobutyric acid transaminase deficiency
Gamma aminobutyric acid transaminase deficiency 		0.700 1.000 2 2016 2019
dbSNP: rs1330995774
rs1330995774
ABAT
1.000 0.080 16 8776350 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0342708
Disease: Gamma aminobutyric acid transaminase deficiency
Gamma aminobutyric acid transaminase deficiency 		0.700 0