rs63750812
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 5 | Alzheimer's disease association reported; see discussion |
(G;G) | 0 | common in clinvar |
Make rs63750812(A;A) |
Reference | GRCh38 38.1/142 |
Chromosome | 1 |
Position | 226885623 |
Gene | PSEN2 |
is a | snp |
is | mentioned by |
dbSNP | rs63750812 |
dbSNP (classic) | rs63750812 |
ClinGen | rs63750812 |
ebi | rs63750812 |
HLI | rs63750812 |
Exac | rs63750812 |
Gnomad | rs63750812 |
Varsome | rs63750812 |
LitVar | rs63750812 |
Map | rs63750812 |
PheGenI | rs63750812 |
Biobank | rs63750812 |
1000 genomes | rs63750812 |
hgdp | rs63750812 |
ensembl | rs63750812 |
geneview | rs63750812 |
scholar | rs63750812 |
rs63750812 | |
pharmgkb | rs63750812 |
gwascentral | rs63750812 |
openSNP | rs63750812 |
23andMe | rs63750812 |
SNPshot | rs63750812 |
SNPdbe | rs63750812 |
MSV3d | rs63750812 |
GWAS Ctlg | rs63750812 |
Max Magnitude | 5 |
rs63750812, also known as V148I or Val148Ile, is a SNP in the presenilin PSEN2 gene.
Inherited as an autosomal dominant, the rare rs63750812(A) allele is reported to be causative for early-onset Alzheimer's disease.[PMID 10732806] However, the AlzForum also reports that "No change in proteolytic products PSEN2-CTF and PSEN2-NTF; no change in Aβ42 levels or the Aβ42/Aβ40 ratio", and in combination with the original report, this allele may be more of a predisposing than causative mutation.
ClinVar | |
---|---|
Risk | rs63750812(A;A) |
Alt | rs63750812(A;A) |
Reference | Rs63750812(G;G) |
Significance | Untested |
Disease | not provided |
Variation | info |
Gene | PSEN2 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.227073324G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000084263.1, |