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rs63749805

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 7 Alzheimer's disease
(C;C) 0 common/normal
(C;T) 7 Alzheimer's disease
Make rs63749805(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position73173577
GenePSEN1
is asnp
is mentioned by
dbSNPrs63749805
dbSNP (classic)rs63749805
ClinGenrs63749805
ebirs63749805
HLIrs63749805
Exacrs63749805
Gnomadrs63749805
Varsomers63749805
LitVarrs63749805
Maprs63749805
PheGenIrs63749805
Biobankrs63749805
1000 genomesrs63749805
hgdprs63749805
ensemblrs63749805
geneviewrs63749805
scholarrs63749805
googlers63749805
pharmgkbrs63749805
gwascentralrs63749805
openSNPrs63749805
23andMers63749805
23andMe allrs63749805
SNPshotrs63749805
SNPdbers63749805
MSV3drs63749805
GWAS Ctlgrs63749805
Max Magnitude7

rs63749805, also known as c.350C>T, P117L or Pro117Leu, is a SNP in the presenilin 1 PSEN1 gene.

Inherited as an autosomal dominant, the rare rs63749805(T) allele is considered pathogenic for early-onset Alzheimer's disease according to AlzForum.

23andMe name for the c.350C>T version of this SNP: i5047529

The c.350C>A (p.Pro117Gln) variant of this SNP is reported in [PMID 28350801OA-icon.png] to be a "definitely" pathogenic mutation.

ClinVar
Risk rs63749805(T;T)
Alt rs63749805(T;T)
Reference Rs63749805(C;C)
Significance Untested
Disease not provided
Variation info
Gene PSEN1
CLNDBN not provided
Reversed 0
HGVS NC_000014.8:g.73640285C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000084298.1,