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rs63750900

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 9 early-onset Alzheimers disease
(G;G) 0 common in clinvar


Make rs63750900(A;A)
ReferenceGRCh38 38.1/141
Chromosome14
Position73198067
GenePSEN1
is asnp
is mentioned by
dbSNPrs63750900
ebirs63750900
HLIrs63750900
Exacrs63750900
Varsomers63750900
Maprs63750900
PheGenIrs63750900
hapmaprs63750900
1000 genomesrs63750900
hgdprs63750900
ensemblrs63750900
gopubmedrs63750900
geneviewrs63750900
scholarrs63750900
googlers63750900
pharmgkbrs63750900
gwascentralrs63750900
openSNPrs63750900
23andMers63750900
23andMe allrs63750900
SNP Nexus

SNPshotrs63750900
SNPdbers63750900
MSV3drs63750900
GWAS Ctlgrs63750900
Max Magnitude9

rs63750900, also known as R269H or Arg269His, is a SNP in the presenilin 1 PSEN1 gene.

The rare rs63750900(A) allele is considered causative for early-onset Alzheimer's disease.{{PMID|


ClinVar
Risk rs63750900(A;A)
Alt rs63750900(A;A)
Reference rs63750900(G;G)
Significance Pathogenic
Disease Alzheimer disease not provided
Variation info
Gene PSEN1
CLNDBN Alzheimer disease, type 4 not provided
Reversed 0
HGVS NC_000014.8:g.73664775G>A
CLNSRC ClinVar GeneReviews Neurodegenerative Brain Diseases Group
CLNACC RCV000031858.1, RCV000084374.1,



[PMID 16267640] Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.