Have questions? Visit https://www.reddit.com/r/SNPedia

rs2227902

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs2227902(G;T)
Make rs2227902(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position56930934
GeneREST
is asnp
is mentioned by
dbSNPrs2227902
ebirs2227902
HLIrs2227902
Exacrs2227902
Varsomers2227902
Maprs2227902
PheGenIrs2227902
hapmaprs2227902
1000 genomesrs2227902
hgdprs2227902
ensemblrs2227902
gopubmedrs2227902
geneviewrs2227902
scholarrs2227902
googlers2227902
pharmgkbrs2227902
gwascentralrs2227902
openSNPrs2227902
23andMers2227902
23andMe allrs2227902
SNP Nexus

SNPshotrs2227902
SNPdbers2227902
MSV3drs2227902
GWAS Ctlgrs2227902
GMAF0.0753
Max Magnitude0
? (G;G) (G;T) (T;T) 28

[PMID 18518926] - rs2227902 and rs3796530 were found to be in 100% LD with a variable number tandem repeat (VNTR) length variant in the REST gene in a sample of 746 elderly Caucasians. Minor alleles (T and A, respectively) at both locations associated with the 4-length VNTR, while common alleles associated with the VNTR 5-length repeat. Carriers of the 4-length VNTR homozygous for the Val66 variant in the BDNF gene performed slightly, but significantly (p = 0.004), better than those without in the general cognitive tests performed in the study. Carriers of the 5-length VNTR and the 66Met BDNF variant had significantly lower g (p = 0.01), but the effect was not as great as the individual effect of the 66Met allele.


GET Evidence
REST-E692D
aa_change Glu692Asp
aa_change_short E692D
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0772448
summary