Have questions? Visit https://www.reddit.com/r/SNPedia

rs150400387

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;T) 5 Possible Alzheimer's disease mutation - see discussion
Make rs150400387(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome1
Position226883747
GenePSEN2
is asnp
is mentioned by
dbSNPrs150400387
dbSNP (classic)rs150400387
ClinGenrs150400387
ebirs150400387
HLIrs150400387
Exacrs150400387
Gnomadrs150400387
Varsomers150400387
LitVarrs150400387
Maprs150400387
PheGenIrs150400387
Biobankrs150400387
1000 genomesrs150400387
hgdprs150400387
ensemblrs150400387
geneviewrs150400387
scholarrs150400387
googlers150400387
pharmgkbrs150400387
gwascentralrs150400387
openSNPrs150400387
23andMers150400387
23andMe allrs150400387
SNPshotrs150400387
SNPdbers150400387
MSV3drs150400387
GWAS Ctlgrs150400387
Max Magnitude5

rs150400387, also known as c.184C>T, p.Arg62Cys and R62C, represents a rare mutation in the PSEN2 gene on chromosome 1.

Certain mutations in the PSEN2 gene lead to early-onset Alzheimer's disease, usually inherited in an autosomal dominant manner. The rs150400387(T) allele is reported in a 49 year old Korean patient as being pathogenic, as also predicted by structural calculations.10.2147/CIA.S128884

However, the AlzForum database, which does tabulate at least 4 individuals with Alzheimer's carrying this mutation, concludes that the pathogenicity remains unclear.[1]