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rs1731017

From SNPedia

Orientationminus
Stabilizedminus
Make rs1731017(C;C)
Make rs1731017(C;T)
Make rs1731017(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position8746097
GeneABAT
is asnp
is mentioned by
dbSNPrs1731017
ebirs1731017
HLIrs1731017
Exacrs1731017
Varsomers1731017
Maprs1731017
PheGenIrs1731017
hapmaprs1731017
1000 genomesrs1731017
hgdprs1731017
ensemblrs1731017
gopubmedrs1731017
geneviewrs1731017
scholarrs1731017
googlers1731017
pharmgkbrs1731017
gwascentralrs1731017
openSNPrs1731017
23andMers1731017
23andMe allrs1731017
SNP Nexus

SNPshotrs1731017
SNPdbers1731017
MSV3drs1731017
GWAS Ctlgrs1731017
GMAF0.4513
Max Magnitude
? (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