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rs12129547

From SNPedia

Orientationplus
Stabilizedplus
Make rs12129547(C;C)
Make rs12129547(C;T)
Make rs12129547(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position240531955
GeneGREM2
is asnp
is mentioned by
dbSNPrs12129547
dbSNP (classic)rs12129547
ClinGenrs12129547
ebirs12129547
HLIrs12129547
Exacrs12129547
Gnomadrs12129547
Varsomers12129547
LitVarrs12129547
Maprs12129547
PheGenIrs12129547
Biobankrs12129547
1000 genomesrs12129547
hgdprs12129547
ensemblrs12129547
geneviewrs12129547
scholarrs12129547
googlers12129547
pharmgkbrs12129547
gwascentralrs12129547
openSNPrs12129547
23andMers12129547
SNPshotrs12129547
SNPdbers12129547
MSV3drs12129547
GWAS Ctlgrs12129547
Max Magnitude0
? (C;C) (C;T) (T;T) 28


Using an innovative GWAS technique, SNPs influencing the age of onset for Alzheimer's disease in carriers of the p.Glu282Ala mutation was determined.

rs 12129547 (closest gene GREM2) combined p value=1.7x10-13.

This result has not been replicated, though the p value determined in this initial study was highly significant. Further, this result might be limited to the PSEN1 p.Glu282Ala Columbian kindred in this study.

The magnitude of the change in age of onset of AD was not presented in the article.

PMID 22710270