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rs533813519

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 7 Early-onset Alzheimer's disease (predicted as possible)
(C;C) 0 common/normal


Make rs533813519(A;A)
ReferenceGRCh38.p7 38.3/151
Chromosome1
Position226888097
GenePSEN2
is asnp
is mentioned by
dbSNPrs533813519
dbSNP (classic)rs533813519
ClinGenrs533813519
ebirs533813519
HLIrs533813519
Exacrs533813519
Gnomadrs533813519
Varsomers533813519
LitVarrs533813519
Maprs533813519
PheGenIrs533813519
Biobankrs533813519
1000 genomesrs533813519
hgdprs533813519
ensemblrs533813519
geneviewrs533813519
scholarrs533813519
googlers533813519
pharmgkbrs533813519
gwascentralrs533813519
openSNPrs533813519
23andMers533813519
23andMe allrs533813519
SNPshotrs533813519
SNPdbers533813519
MSV3drs533813519
GWAS Ctlgrs533813519
Max Magnitude7

aka c.505C>A, p.His169Asn or H169N

The rare rs533813519(C) mutation in the PSEN2 gene was observed in a female Korean patient with early-onset Alzheimer's disease and was considered to be associated and most likely inherited in an autosomal dominant manner.[PMID 25323700]