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rs2270641

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 2.1 3.7x higher risk for schizophrenia
(G;T)  ?
(T;T) 0 normal
ReferenceGRCh38 38.1/141
Chromosome8
Position20180955
GeneSLC18A1
is asnp
is mentioned by
dbSNPrs2270641
ebirs2270641
HLIrs2270641
Exacrs2270641
Varsomers2270641
Maprs2270641
PheGenIrs2270641
hapmaprs2270641
1000 genomesrs2270641
hgdprs2270641
ensemblrs2270641
gopubmedrs2270641
geneviewrs2270641
scholarrs2270641
googlers2270641
pharmgkbrs2270641
gwascentralrs2270641
openSNPrs2270641
23andMers2270641
23andMe allrs2270641
SNP Nexus

SNPshotrs2270641
SNPdbers2270641
MSV3drs2270641
GWAS Ctlgrs2270641
Merged fromRs56575139
GMAF0.2732
Max Magnitude2.1
? (G;G) (G;T) (T;T) 28
rs2270641 is a SNP in the vesicular monoamine transporter SLC18A1 gene, encoding a Thr4Pro substitution. In dbSNP orientation, the (G) allele is associated with the Proline.

A study of 62 patients with schizophrenia concluded that the frequency of rs2270641(G;G) homozygotes was significantly higher. The reported odds ratio was 3.74 (CI: 1.7-8.2, p=0.0006) in this population of European descent.[PMID 18451639]

Note: another SNP, rs56575139, marks the same genomic location as rs2270641.


[PMID 16936705OA-icon.png] Variations in the vesicular monoamine transporter 1 gene (VMAT1/SLC18A1) are associated with bipolar i disorder.


[PMID 17134514OA-icon.png] Association study of the vesicular monoamine transporter 1 (VMAT1) gene with schizophrenia in a Japanese population.


[PMID 19911060OA-icon.png] Persistence criteria for susceptibility genes for schizophrenia: a discussion from an evolutionary viewpoint.


GET Evidence
SLC18A1-T4P
aa_change Thr4Pro
aa_change_short T4P
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.284345
summary