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

rs63750215

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 9 early-onset Alzheimer's disease
Make rs63750215(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position226885603
GenePSEN2
is asnp
is mentioned by
dbSNPrs63750215
ebirs63750215
HLIrs63750215
Exacrs63750215
Varsomers63750215
Maprs63750215
PheGenIrs63750215
hapmaprs63750215
1000 genomesrs63750215
hgdprs63750215
ensemblrs63750215
gopubmedrs63750215
geneviewrs63750215
scholarrs63750215
googlers63750215
pharmgkbrs63750215
gwascentralrs63750215
openSNPrs63750215
23andMers63750215
23andMe allrs63750215
SNP Nexus

SNPshotrs63750215
SNPdbers63750215
MSV3drs63750215
GWAS Ctlgrs63750215
Max Magnitude9

rs63750215, also known as N141I or Asn141Ile, is a SNP in the presenilin 2 PSEN2 gene.

Inherited as an autosomal dominant, the rare rs63750215(T) allele is considered causative for early-onset Alzheimer's disease; see [PMID 8661049]. The actual age of onset appears to be somewhat modified by other loci.[PMID 15389756]

OMIM600759
Desc
Variant0001
Relatedalso


ClinVar
Risk rs63750215(T;T)
Alt rs63750215(T;T)
Reference rs63750215(A;A)
Significance Pathogenic
Disease Alzheimer disease not provided
Variation info
Gene PSEN2
CLNDBN Alzheimer disease, type 4 not provided
Reversed 0
HGVS NC_000001.10:g.227073304A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009393.4, RCV000084262.1,



[PMID 7638622] Candidate gene for the chromosome 1 familial Alzheimer's disease locus.


[PMID 7651536] Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene.


[PMID 9050898OA-icon.png] The presenilin 2 mutation (N141I) linked to familial Alzheimer disease (Volga German families) increases the secretion of amyloid beta protein ending at the 42nd (or 43rd) residue.


[PMID 9813158] Alzheimer's disease-linked mutation of presenilin 2 (N141I-PS2) drastically lowers APPalpha secretion: control by the proteasome.