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rs367855127

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;T) 7 Possible early-onset Alzheimer's disease mutation; see discussion
Make rs367855127(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position226888974
GenePSEN2
is asnp
is mentioned by
dbSNPrs367855127
dbSNP (classic)rs367855127
ClinGenrs367855127
ebirs367855127
HLIrs367855127
Exacrs367855127
Gnomadrs367855127
Varsomers367855127
LitVarrs367855127
Maprs367855127
PheGenIrs367855127
Biobankrs367855127
1000 genomesrs367855127
hgdprs367855127
ensemblrs367855127
geneviewrs367855127
scholarrs367855127
googlers367855127
pharmgkbrs367855127
gwascentralrs367855127
openSNPrs367855127
23andMers367855127
SNPshotrs367855127
SNPdbers367855127
MSV3drs367855127
GWAS Ctlgrs367855127
Max Magnitude7

rs367855127, also known as c.712C>T, p.Leu238Phe and L238F, is a variant in the PSEN2 gene on chromosome 10.

The rs367855127(T) variant was found in a single individual diagnosed with early-onset Alzheimer's disease and with no family history of the disorder. As cited in the AlzForum mutation database, this is reported to be an early-onset mutation, although confirmatory evidence does not appear to be available as of yet.[PMID 25937274]