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rs63750450

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common/normal
(A;G) 7 Alzheimer's disease (reported)
Make rs63750450(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position73173571
GenePSEN1
is asnp
is mentioned by
dbSNPrs63750450
dbSNP (old)rs63750450
ClinGenrs63750450
ebirs63750450
HLIrs63750450
Exacrs63750450
Gnomadrs63750450
Varsomers63750450
Maprs63750450
PheGenIrs63750450
Biobankrs63750450
1000 genomesrs63750450
hgdprs63750450
ensemblrs63750450
gopubmedrs63750450
geneviewrs63750450
scholarrs63750450
googlers63750450
pharmgkbrs63750450
gwascentralrs63750450
openSNPrs63750450
23andMers63750450
23andMe allrs63750450
SNPshotrs63750450
SNPdbers63750450
MSV3drs63750450
GWAS Ctlgrs63750450
Max Magnitude7

rs63750450, also known as c.344A>G, Y115C or Tyr115Cys, is a SNP in the presenilin 1 PSEN1 gene.

Inherited as an autosomal dominant, the rare rs63750450(G) allele is considered pathogenic for early-onset Alzheimer's disease according to AlzForum.

Reported in [PMID 28350801OA-icon.png] to be a "definitely" pathogenic mutation.


ClinVar
Risk rs63750450(G;G)
Alt rs63750450(G;G)
Reference Rs63750450(A;A)
Significance Untested
Disease not provided
Variation info
Gene PSEN1
CLNDBN not provided
Reversed 0
HGVS NC_000014.8:g.73640279A>G
CLNSRC UniProtKB (protein)
CLNACC RCV000084295.1,