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rs63750218

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 8 Alzheimers disease
(T;T) 0 common in clinvar


Make rs63750218(C;C)
ReferenceGRCh38 38.1/141
Chromosome14
Position73217171
GenePSEN1
is asnp
is mentioned by
dbSNPrs63750218
ebirs63750218
HLIrs63750218
Exacrs63750218
Varsomers63750218
Maprs63750218
PheGenIrs63750218
hapmaprs63750218
1000 genomesrs63750218
hgdprs63750218
ensemblrs63750218
gopubmedrs63750218
geneviewrs63750218
scholarrs63750218
googlers63750218
pharmgkbrs63750218
gwascentralrs63750218
openSNPrs63750218
23andMers63750218
23andMe allrs63750218
SNP Nexus

SNPshotrs63750218
SNPdbers63750218
MSV3drs63750218
GWAS Ctlgrs63750218
Max Magnitude8

rs63750218, also known as L392P or Leu392Pro, is a SNP in the presenilin 1 PSEN1 gene.

The rare rs63750218(C) allele is reported as a pathogenic mutation for Alzheimer's disease.[PMID 11094128]


ClinVar
Risk rs63750218(C;C)
Alt rs63750218(C;C)
Reference rs63750218(T;T)
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.73683879T>C
CLNSRC ClinVar GeneReviews Neurodegenerative Brain Diseases Group
CLNACC RCV000020082.1, RCV000084403.1,



[PMID 11094128] A presenilin-1 mutation (Leu392Pro) in a familial AD kindred with psychiatric symptoms at onset.