rs63750487

Orientation

plus

Stabilized

plus

Make rs63750487(C;C)

Make rs63750487(C;T)

Make rs63750487(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

14

Position

73192771

Gene

PSEN1

is a	snp
is	mentioned by
dbSNP	rs63750487
dbSNP (classic)	rs63750487
ClinGen	rs63750487
ebi	rs63750487
HLI	rs63750487
Exac	rs63750487
Gnomad	rs63750487
Varsome	rs63750487
LitVar	rs63750487
Map	rs63750487
PheGenI	rs63750487
Biobank	rs63750487
1000 genomes	rs63750487
hgdp	rs63750487
ensembl	rs63750487
geneview	rs63750487
scholar	rs63750487
google	rs63750487
pharmgkb	rs63750487
gwascentral	rs63750487
openSNP	rs63750487
23andMe	rs63750487
SNPshot	rs63750487
SNPdbe	rs63750487
MSV3d	rs63750487
GWAS Ctlg	rs63750487

Max Magnitude

0

rs63750487, also known as c.676C>T, p.Leu226Phe and L226F, represents a rare mutation in the PSEN1 gene.

The rs63750487(T) allele has been reported to be a dominant mutation leading with high penetrance to early-onset Alzheimer's disease.10.2147/CIA.S111821

ClinVar
Risk	rs63750487(T;T)
Alt	rs63750487(T;T)
Reference	rs63750487(C;C)
Significance	Untested
Disease	not provided
Variation	info
Gene	PSEN1
CLNDBN	not provided
Reversed	0
HGVS	NC_000014.8:g.73659479C>T
CLNSRC
CLNACC	RCV000084349.1,