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rs17125721

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs17125721(A;G)
Make rs17125721(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position73206470
GenePSEN1
is asnp
is mentioned by
dbSNPrs17125721
ebirs17125721
HLIrs17125721
Exacrs17125721
Varsomers17125721
Maprs17125721
PheGenIrs17125721
hapmaprs17125721
1000 genomesrs17125721
hgdprs17125721
ensemblrs17125721
gopubmedrs17125721
geneviewrs17125721
scholarrs17125721
googlers17125721
pharmgkbrs17125721
gwascentralrs17125721
openSNPrs17125721
23andMers17125721
23andMe allrs17125721
SNP Nexus

SNPshotrs17125721
SNPdbers17125721
MSV3drs17125721
GWAS Ctlgrs17125721
GMAF0.009183
Max Magnitude0
? (A;A) (A;G) (G;G) 28
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3750021/

This is research done at Washington University in St Louis Missouri. They have discovered a presenilin1 gene variation that appears to increase the Alzheimer's risk of an APO E3/E4 individual to that of an APO E4/E4 individual. They are trying to discover why at least a third of people with Alzheimer's disease do not have the an APO E4 allele, and why some people who are homozygotes for APO E4 do not get the disease. Certain mutations are being discovered (not just this) that may help explain why. Note that these initial studies should be confirmed in other studies.

[PMID 27357204OA-icon.png] Did not find any statistically significant association between rs17125721 (E318G) and APOE4, however, study may have been "underpowered".


[PMID 18485326OA-icon.png] Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome.


ClinVar
Risk rs17125721(G;G)
Alt rs17125721(G;G)
Reference rs17125721(A;A)
Significance Non-pathogenic
Disease not provided Alzheimer's disease
Variation info
Gene PSEN1
CLNDBN not provided Alzheimer's disease
Reversed 0
HGVS NC_000014.8:g.73673178A>G
CLNSRC ClinVar Neurodegenerative Brain Diseases Group
CLNACC RCV000084390.1, RCV000172776.2,