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rs775145486

From SNPedia

Orientationplus
Stabilizedplus


Make rs775145486(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position226888116
GenePSEN2
is asnp
is mentioned by
dbSNPrs775145486
dbSNP (classic)rs775145486
ClinGenrs775145486
ebirs775145486
HLIrs775145486
Exacrs775145486
Gnomadrs775145486
Varsomers775145486
LitVarrs775145486
Maprs775145486
PheGenIrs775145486
Biobankrs775145486
1000 genomesrs775145486
hgdprs775145486
ensemblrs775145486
geneviewrs775145486
scholarrs775145486
googlers775145486
pharmgkbrs775145486
gwascentralrs775145486
openSNPrs775145486
23andMers775145486
SNPshotrs775145486
SNPdbers775145486
MSV3drs775145486
GWAS Ctlgrs775145486
Max Magnitude0

rs775145486, also known as c.524C>G, S175C or Ser175Cys, is a SNP in the presenilin 2 PSEN2 gene.


Reported in the AlzForum database as pathogenic for Alzheimer's disease, based on the 2010 publication [PMID 20164579].

Note that the 23andMe name for this mutation is i5047676.