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

rs63749911

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 7 Alzheimer's disease
(T;T) 0 common/normal


Make rs63749911(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position73186901
GenePSEN1
is asnp
is mentioned by
dbSNPrs63749911
dbSNP (old)rs63749911
ClinGenrs63749911
ebirs63749911
HLIrs63749911
Exacrs63749911
Gnomadrs63749911
Varsomers63749911
Maprs63749911
PheGenIrs63749911
Biobankrs63749911
1000 genomesrs63749911
hgdprs63749911
ensemblrs63749911
gopubmedrs63749911
geneviewrs63749911
scholarrs63749911
googlers63749911
pharmgkbrs63749911
gwascentralrs63749911
openSNPrs63749911
23andMers63749911
23andMe allrs63749911
SNPshotrs63749911
SNPdbers63749911
MSV3drs63749911
GWAS Ctlgrs63749911
Max Magnitude7
rs63749911, also known as c.529T>C, F177L or Phe177Leu, is a SNP in the presenilin 1 PSEN1 gene.

Inherited as an autosomal dominant, the rare rs63749911(C) allele is considered pathogenic for Alzheimer's disease according to AlzForum.

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


ClinVar
Risk rs63749911(C;C)
Alt rs63749911(C;C)
Reference Rs63749911(T;T)
Significance Untested
Disease not provided
Variation info
Gene PSEN1
CLNDBN not provided
Reversed 0
HGVS NC_000014.8:g.73653609T>C
CLNSRC
CLNACC RCV000084332.1,