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rs61757781

From SNPedia

Mutation in the PSEN2 Gene
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 Normal
(A;G) 1 Carrier of possibly damaging mutation leading to Alzheimer's Disease
(G;G) 1.5 Carrier of possibly damaging mutation leading to Alzheimer's Disease
ReferenceGRCh38 38.1/141
Chromosome1
Position226888112
GenePSEN2
is asnp
is mentioned by
dbSNPrs61757781
ebirs61757781
HLIrs61757781
Exacrs61757781
Varsomers61757781
Maprs61757781
PheGenIrs61757781
hapmaprs61757781
1000 genomesrs61757781
hgdprs61757781
ensemblrs61757781
gopubmedrs61757781
geneviewrs61757781
scholarrs61757781
googlers61757781
pharmgkbrs61757781
gwascentralrs61757781
openSNPrs61757781
23andMers61757781
23andMe allrs61757781
SNP Nexus

SNPshotrs61757781
SNPdbers61757781
MSV3drs61757781
GWAS Ctlgrs61757781
Max Magnitude1.5
Met174Val (A > G) mutation; unclear if pathogenic, it is included in the Alzheimer Disease & Frontotemporal Dementia Mutation Database.

Clinical manifestation : early onset Alzheimer's Disease

Early literature classified this as pathogenic, the latest ones cast some doubts.

[PMID 18667258OA-icon.png] Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP.

[PMID 22312439OA-icon.png] Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families.