rs121434578, ABAT

N. diseases: 5
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Gamma aminobutyric acid transaminase deficiency
CUI: C0342708
Disease: Gamma aminobutyric acid transaminase deficiency
12 1.000 0.080 16 8768248 missense variant G/A snv 0.800 1.000 3 1999 2013
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 1.000 0.080 16 8768248 missense variant G/A snv 0.700 1.000 1 2010 2010
Hyperreflexia
CUI: C0151889
Disease: Hyperreflexia
19 1.000 0.080 16 8768248 missense variant G/A snv 0.700 1.000 1 2010 2010
Seizures, intractable
CUI: C2674422
Disease: Seizures, intractable
6 1.000 0.080 16 8768248 missense variant G/A snv 0.700 1.000 1 2010 2010
Severe global developmental delay
CUI: C1837397
Disease: Severe global developmental delay
50 1.000 0.080 16 8768248 missense variant G/A snv 0.700 1.000 1 2010 2010