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rs63751229

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 9 early-onset Alzheimers disease
Make rs63751229(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position73198060
GenePSEN1
is asnp
is mentioned by
dbSNPrs63751229
ebirs63751229
HLIrs63751229
Exacrs63751229
Varsomers63751229
Maprs63751229
PheGenIrs63751229
hapmaprs63751229
1000 genomesrs63751229
hgdprs63751229
ensemblrs63751229
gopubmedrs63751229
geneviewrs63751229
scholarrs63751229
googlers63751229
pharmgkbrs63751229
gwascentralrs63751229
openSNPrs63751229
23andMers63751229
23andMe allrs63751229
SNP Nexus

SNPshotrs63751229
SNPdbers63751229
MSV3drs63751229
GWAS Ctlgrs63751229
Max Magnitude9

rs63751229, also known as P267S or Pro267Ser, is a SNP in the presenilin 1 PSEN1 gene.

The rare rs63751229(T) allele is considered causative for early-onset Alzheimer's disease.[PMID 7550356]

OMIM104311
Desc
Variant0011
Relatedalso


ClinVar
Risk rs63751229(T;T)
Alt rs63751229(T;T)
Reference rs63751229(C;C)
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.73664768C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019762.26, RCV000084371.1,