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rs63750577

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 9 early-onset Alzheimers disease
Make rs63750577(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position73186881
GenePSEN1
is asnp
is mentioned by
dbSNPrs63750577
ebirs63750577
HLIrs63750577
Exacrs63750577
Varsomers63750577
Maprs63750577
PheGenIrs63750577
hapmaprs63750577
1000 genomesrs63750577
hgdprs63750577
ensemblrs63750577
gopubmedrs63750577
geneviewrs63750577
scholarrs63750577
googlers63750577
pharmgkbrs63750577
gwascentralrs63750577
openSNPrs63750577
23andMers63750577
23andMe allrs63750577
SNP Nexus

SNPshotrs63750577
SNPdbers63750577
MSV3drs63750577
GWAS Ctlgrs63750577
Max Magnitude9

rs63750577, also known as S170F or Ser170Phe, is a SNP in the presenilin 1 PSEN1 gene.

The rare rs63750577(T) allele is considered causative for early-onset Alzheimer's disease.[PMID 16344340]

OMIM104311
Desc
Variant0036
Relatedalso


ClinVar
Risk rs63750577(T;T)
Alt rs63750577(T;T)
Reference rs63750577(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.73653589C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019788.27, RCV000084326.1,



[PMID 16344340] Novel presenilin 1 mutation (S170F) causing Alzheimer disease with Lewy bodies in the third decade of life.


[PMID 17502474] Association of a presenilin 1 S170F mutation with a novel Alzheimer disease molecular phenotype.