rs63749911

plus

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

Make rs63749911(C;C)

Reference

GRCh38.p7 38.3/150

Chromosome

14

Position

73186901

Gene

PSEN1

is a	snp
is	mentioned by
dbSNP	rs63749911
dbSNP (classic)	rs63749911
ClinGen	rs63749911
ebi	rs63749911
HLI	rs63749911
Exac	rs63749911
Gnomad	rs63749911
Varsome	rs63749911
LitVar	rs63749911
Map	rs63749911
PheGenI	rs63749911
Biobank	rs63749911
1000 genomes	rs63749911
hgdp	rs63749911
ensembl	rs63749911
geneview	rs63749911
scholar	rs63749911
google	rs63749911
pharmgkb	rs63749911
gwascentral	rs63749911
openSNP	rs63749911
23andMe	rs63749911
SNPshot	rs63749911
SNPdbe	rs63749911
MSV3d	rs63749911
GWAS Ctlg	rs63749911

Max Magnitude

7

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 28350801 ] to be a "definitely" pathogenic mutation.

Although Promethease statistics do not currently show evidence that 23andMe is obviously prone to miscalling this mutation, an example of such an error (i.e. a false positive by 23andMe for this mutation) is discussed in this 2018 NY Times article.

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,