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rs63749851

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 9 Early-onset Alzheimer's disease
Make rs63749851(C;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position226885545
GenePSEN2
is asnp
is mentioned by
dbSNPrs63749851
ebirs63749851
HLIrs63749851
Exacrs63749851
Varsomers63749851
Maprs63749851
PheGenIrs63749851
hapmaprs63749851
1000 genomesrs63749851
hgdprs63749851
ensemblrs63749851
gopubmedrs63749851
geneviewrs63749851
scholarrs63749851
googlers63749851
pharmgkbrs63749851
gwascentralrs63749851
openSNPrs63749851
23andMers63749851
23andMe allrs63749851
SNP Nexus

SNPshotrs63749851
SNPdbers63749851
MSV3drs63749851
GWAS Ctlgrs63749851
Max Magnitude9

rs63749851, also known as T122P or Thr122Pro, is a SNP in the presenilin 2 PSEN2 gene.

Inherited as an autosomal dominant, the rare rs63749851(C) allele is considered causative for early-onset Alzheimer's disease, as reported in [PMID 10631141OA-icon.png]. If you are aware of individuals carrying this allele who are past the age of 50 and who are not Alzheimer patients, please let us know.

OMIM600759
Desc
Variant0005
Relatedalso


ClinVar
Risk rs63749851(C;C)
Alt rs63749851(C;C)
Reference rs63749851(A;A)
Significance Pathogenic
Disease Alzheimer disease not provided
Variation info
Gene PSEN2
CLNDBN Alzheimer disease, type 4 not provided
Reversed 0
HGVS NC_000001.10:g.227073246A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009397.3, RCV000084260.1,