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rs1731017

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1731017(C;C)
Make rs1731017(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position8746097
GeneABAT
is asnp
is mentioned by
dbSNPrs1731017
dbSNP (old)rs1731017
ClinGenrs1731017
ebirs1731017
HLIrs1731017
Exacrs1731017
Varsomers1731017
Maprs1731017
PheGenIrs1731017
Biobankrs1731017
1000 genomesrs1731017
hgdprs1731017
ensemblrs1731017
gopubmedrs1731017
geneviewrs1731017
scholarrs1731017
googlers1731017
pharmgkbrs1731017
gwascentralrs1731017
openSNPrs1731017
23andMers1731017
23andMe allrs1731017
SNP Nexus

SNPshotrs1731017
SNPdbers1731017
MSV3drs1731017
GWAS Ctlgrs1731017
GMAF0.4513
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene ABAT
allele G
frequency 0.6
sift TOLERATED
HuRef 1103645419099
Disease Association Defects in ABAT are a cause of GABA-AT deficiency (MIM:137150). The phenotype of this deficiency includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities.



[PMID 15830322OA-icon.png] Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: evidence of association at GRIN2A and ABAT.


GET Evidence
ABAT-Q56R
aa_change Gln56Arg
aa_change_short Q56R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.513574
summary



ClinVar
Risk rs1731017(C;C)
Alt rs1731017(C;C)
Reference Rs1731017(T;T)
Significance Non-pathogenic
Disease Gamma-aminobutyric acid transaminase deficiency
Variation info
Gene ABAT
CLNDBN Gamma-aminobutyric acid transaminase deficiency
Reversed 1
HGVS NC_000016.9:g.8839954A>G
CLNSRC
CLNACC RCV000342704.1,