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: rs121434578
rs121434578
ABAT
1.000 0.080 16 8768248 missense variant G/A snv
CUI: C0342708
Disease: Gamma aminobutyric acid transaminase deficiency
Gamma aminobutyric acid transaminase deficiency 		0.800 1.000 3 1999 2013
dbSNP: rs1567310537
rs1567310537
ABAT
1.000 0.080 16 8764744 missense variant C/T snv
CUI: C0342708
Disease: Gamma aminobutyric acid transaminase deficiency
Gamma aminobutyric acid transaminase deficiency 		0.700 1.000 2 2016 2019
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: 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: rs1057523345
rs1057523345
ABAT ; TMEM186
1.000 0.080 16 8781321 missense variant G/A snv
CUI: C0342708
Disease: Gamma aminobutyric acid transaminase deficiency
Gamma aminobutyric acid transaminase deficiency 		0.700 1.000 1 2019 2019
dbSNP: rs121434578
rs121434578
ABAT
1.000 0.080 16 8768248 missense variant G/A snv
CUI: C2674422
Disease: Seizures, intractable
Seizures, intractable 		0.700 1.000 1 2010 2010
dbSNP: rs121434578
rs121434578
ABAT
1.000 0.080 16 8768248 missense variant G/A snv
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.700 1.000 1 2010 2010
dbSNP: rs121434578
rs121434578
ABAT
1.000 0.080 16 8768248 missense variant G/A snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 1.000 1 2010 2010
dbSNP: rs121434578
rs121434578
ABAT
1.000 0.080 16 8768248 missense variant G/A snv
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.700 1.000 1 2010 2010
dbSNP: rs1273385
rs1273385
ABAT
16 8712564 intron variant T/C snv 0.68
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs1567300736
rs1567300736
ABAT
1.000 0.080 16 8746099 splice donor variant G/A snv
CUI: C0342708
Disease: Gamma aminobutyric acid transaminase deficiency
Gamma aminobutyric acid transaminase deficiency 		0.700 1.000 1 2019 2019
dbSNP: rs1567312671
rs1567312671
ABAT
1.000 0.080 16 8768227 missense variant T/G snv
CUI: C0342708
Disease: Gamma aminobutyric acid transaminase deficiency
Gamma aminobutyric acid transaminase deficiency 		0.700 1.000 1 2019 2019
dbSNP: rs1640980
rs1640980
ABAT
16 8709764 intron variant A/C snv 0.68
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs1641025
rs1641025
ABAT
16 8777531 intron variant T/C snv 0.74
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.700 1.000 1 2018 2018
dbSNP: rs1731061
rs1731061
ABAT
16 8709147 intron variant A/G snv 0.69
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs1731062
rs1731062
ABAT
16 8708895 intron variant C/T snv 0.69
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs1731069
rs1731069
ABAT
16 8706975 intron variant C/A;T snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs1731070
rs1731070
ABAT
16 8706762 intron variant G/A;C snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs3095512
rs3095512
ABAT
16 8708187 intron variant T/A snv 0.69
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs724159991
rs724159991
ABAT ; TMEM186
1.000 0.080 16 8781360 missense variant T/C snv
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.700 1.000 1 2010 2010
dbSNP: rs724159991
rs724159991
ABAT ; TMEM186
1.000 0.080 16 8781360 missense variant T/C snv
CUI: C2674422
Disease: Seizures, intractable
Seizures, intractable 		0.700 1.000 1 2010 2010
dbSNP: rs724159991
rs724159991
ABAT ; TMEM186
1.000 0.080 16 8781360 missense variant T/C snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 1.000 1 2010 2010
dbSNP: rs724159991
rs724159991
ABAT ; TMEM186
1.000 0.080 16 8781360 missense variant T/C snv
CUI: C0342708
Disease: Gamma aminobutyric acid transaminase deficiency
Gamma aminobutyric acid transaminase deficiency 		0.700 1.000 1 2010 2010
dbSNP: rs724159991
rs724159991
ABAT ; TMEM186
1.000 0.080 16 8781360 missense variant T/C snv
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: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.700 1.000 1 2010 2010