rs63750215
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;T) | 9 | early-onset Alzheimer's disease |
Make rs63750215(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 226885603 |
Gene | PSEN2 |
is a | snp |
is | mentioned by |
dbSNP | rs63750215 |
dbSNP (classic) | rs63750215 |
ClinGen | rs63750215 |
ebi | rs63750215 |
HLI | rs63750215 |
Exac | rs63750215 |
Gnomad | rs63750215 |
Varsome | rs63750215 |
LitVar | rs63750215 |
Map | rs63750215 |
PheGenI | rs63750215 |
Biobank | rs63750215 |
1000 genomes | rs63750215 |
hgdp | rs63750215 |
ensembl | rs63750215 |
geneview | rs63750215 |
scholar | rs63750215 |
rs63750215 | |
pharmgkb | rs63750215 |
gwascentral | rs63750215 |
openSNP | rs63750215 |
23andMe | rs63750215 |
SNPshot | rs63750215 |
SNPdbe | rs63750215 |
MSV3d | rs63750215 |
GWAS Ctlg | rs63750215 |
Max Magnitude | 9 |
rs63750215, also known as c.422A>T, 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]
23andMe name: i5047658
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 UniProtKB (protein) |
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 9050898] 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.