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rs63750886

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 9 early-onset Alzheimers disease
Make rs63750886(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position73198072
GenePSEN1
is asnp
is mentioned by
dbSNPrs63750886
ebirs63750886
HLIrs63750886
Exacrs63750886
Varsomers63750886
Maprs63750886
PheGenIrs63750886
hapmaprs63750886
1000 genomesrs63750886
hgdprs63750886
ensemblrs63750886
gopubmedrs63750886
geneviewrs63750886
scholarrs63750886
googlers63750886
pharmgkbrs63750886
gwascentralrs63750886
openSNPrs63750886
23andMers63750886
23andMe allrs63750886
SNP Nexus

SNPshotrs63750886
SNPdbers63750886
MSV3drs63750886
GWAS Ctlgrs63750886
Max Magnitude9

rs63750886, also known as L271V or Leu271Val, is a SNP in the presenilin 1 PSEN1 gene.

The rare rs63750886(G) allele is considered causative for early-onset Alzheimer's disease.[PMID 9172170]

OMIM104311
Desc
Variant0026
Relatedalso


ClinVar
Risk rs63750886(G;G)
Alt rs63750886(G;G)
Reference rs63750886(C;C)
Significance Pathogenic
Disease Alzheimer disease not provided
Variation info
Gene PSEN1
CLNDBN Alzheimer disease, familial, 3, with unusual plaques not provided
Reversed 0
HGVS NC_000014.8:g.73664780C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019778.27, RCV000084375.1,