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rs63750815

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 9 early-onset Alzheimers disease
Make rs63750815(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position73170974
GenePSEN1
is asnp
is mentioned by
dbSNPrs63750815
ebirs63750815
HLIrs63750815
Exacrs63750815
Varsomers63750815
Maprs63750815
PheGenIrs63750815
hapmaprs63750815
1000 genomesrs63750815
hgdprs63750815
ensemblrs63750815
gopubmedrs63750815
geneviewrs63750815
scholarrs63750815
googlers63750815
pharmgkbrs63750815
gwascentralrs63750815
openSNPrs63750815
23andMers63750815
23andMe allrs63750815
SNP Nexus

SNPshotrs63750815
SNPdbers63750815
MSV3drs63750815
GWAS Ctlgrs63750815
Max Magnitude9

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 11796781OA-icon.png]

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 11796781OA-icon.png] A novel mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances.