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rs1816071

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;C)
Make rs1816071(A;A)
Make rs1816071(A;G)
Make rs1816071(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position161332949
GeneGABRB2
is asnp
is mentioned by
dbSNPrs1816071
ebirs1816071
HLIrs1816071
Exacrs1816071
Varsomers1816071
Maprs1816071
PheGenIrs1816071
hapmaprs1816071
1000 genomesrs1816071
hgdprs1816071
ensemblrs1816071
gopubmedrs1816071
geneviewrs1816071
scholarrs1816071
googlers1816071
pharmgkbrs1816071
gwascentralrs1816071
openSNPrs1816071
23andMers1816071
23andMe allrs1816071
SNP Nexus

SNPshotrs1816071
SNPdbers1816071
MSV3drs1816071
GWAS Ctlgrs1816071
GMAF0.3567
Max Magnitude
? (A;A) (A;G) (G;G) 28
Located within intron 8 of the neurotransmitter type A gamma-aminobutyric acid (GABA) A receptor, beta 2 gene, more often as well as officially called GABRB2.

This SNP, or more precisely certain haplotypes associated with it, has been linked to schizophrenia, and in particular systematic schizophrenia, in studies on Japanese, Chinese, and German populations [PMID 14699426, PMID 16950232].

A fascinating and complex argument has been made suggesting that changes in our environment have led to positive selection for the rs1816071(G) containing haplotypes also now seen at increased frequency in schizophrenics [PMID 17520021OA-icon.png].

popular in pubmed


[PMID 20404824] Imprinting in the schizophrenia candidate gene GABRB2 encoding GABA(A) receptor beta(2) subunit


[PMID 16023997] Positive association of the human GABA-A-receptor beta 2 subunit gene haplotype with schizophrenia in the Chinese Han population.


[PMID 16472798] Analysis of GABRB2 association with schizophrenia in German population with DNA sequencing and one-label extension method for SNP genotyping.


[PMID 18715757OA-icon.png] Genetic associations with schizophrenia: meta-analyses of 12 candidate genes.


[PMID 19763268OA-icon.png] Alternative-splicing in the exon-10 region of GABA(A) receptor beta(2) subunit gene: relationships between novel isoforms and psychotic disorders.


[PMID 19909288] GABRB2 in schizophrenia and bipolar disorder: disease association, gene expression and clinical correlations.


[PMID 20221451OA-icon.png] A recombination hotspot in a schizophrenia-associated region of GABRB2.