rs63750815
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 9 | early-onset Alzheimers disease |
Make rs63750815(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 73170974 |
Gene | PSEN1 |
is a | snp |
is | mentioned by |
dbSNP | rs63750815 |
dbSNP (classic) | rs63750815 |
ClinGen | rs63750815 |
ebi | rs63750815 |
HLI | rs63750815 |
Exac | rs63750815 |
Gnomad | rs63750815 |
Varsome | rs63750815 |
LitVar | rs63750815 |
Map | rs63750815 |
PheGenI | rs63750815 |
Biobank | rs63750815 |
1000 genomes | rs63750815 |
hgdp | rs63750815 |
ensembl | rs63750815 |
geneview | rs63750815 |
scholar | rs63750815 |
rs63750815 | |
pharmgkb | rs63750815 |
gwascentral | rs63750815 |
openSNP | rs63750815 |
23andMe | rs63750815 |
SNPshot | rs63750815 |
SNPdbe | rs63750815 |
MSV3d | rs63750815 |
GWAS Ctlg | rs63750815 |
Max Magnitude | 9 |
rs63750815, also known as V89L or Val89Leu, is a SNP in the presenilin 1 PSEN1 gene.
The rare rs63750815(T) allele is considered causative for early-onset Alzheimer's disease.[PMID 11796781]
ClinVar | |
---|---|
Risk | rs63750815(T;T) |
Alt | rs63750815(T;T) |
Reference | Rs63750815(G;G) |
Significance | Pathogenic |
Disease | Alzheimer disease not provided |
Variation | info |
Gene | PSEN1 |
CLNDBN | Alzheimer disease, type 3 not provided |
Reversed | 0 |
HGVS | NC_000014.8:g.73637682G>T |
CLNSRC | ClinVar GeneReviews Neurodegenerative Brain Diseases Group |
CLNACC | RCV000020083.1, RCV000084285.1, |
[PMID 11796781] A novel mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances.