Have questions? Visit https://www.reddit.com/r/SNPedia

rs63751320

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 9 early-onset Alzheimers disease
Make rs63751320(C;C)
ReferenceGRCh38 38.1/141
Chromosome14
Position73192862
GenePSEN1
is asnp
is mentioned by
dbSNPrs63751320
ebirs63751320
HLIrs63751320
Exacrs63751320
Varsomers63751320
Maprs63751320
PheGenIrs63751320
hapmaprs63751320
1000 genomesrs63751320
hgdprs63751320
ensemblrs63751320
gopubmedrs63751320
geneviewrs63751320
scholarrs63751320
googlers63751320
pharmgkbrs63751320
gwascentralrs63751320
openSNPrs63751320
23andMers63751320
23andMe allrs63751320
SNP Nexus

SNPshotrs63751320
SNPdbers63751320
MSV3drs63751320
GWAS Ctlgrs63751320
Max Magnitude9

rs63751320, also known as Y256S or Tyr256Ser, is a SNP in the presenilin 1 PSEN1 gene.

The rare rs63751320(C) allele is considered causative for early-onset Alzheimer's disease.[PMID 12885573]


ClinVar
Risk rs63751320(C;C)
Alt rs63751320(C;C)
Reference rs63751320(A;A)
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.73659570A>C
CLNSRC ClinVar GeneReviews Neurodegenerative Brain Diseases Group
CLNACC RCV000020087.1, RCV000084364.1,



[PMID 12885573] Two novel presenilin-1 mutations (Y256S and Q222H) are associated with early-onset Alzheimer's disease.