rs63751229

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	9	early-onset Alzheimers disease

Make rs63751229(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

73198060

Gene

PSEN1

is a	snp
is	mentioned by
dbSNP	rs63751229
dbSNP (classic)	rs63751229
ClinGen	rs63751229
ebi	rs63751229
HLI	rs63751229
Exac	rs63751229
Gnomad	rs63751229
Varsome	rs63751229
LitVar	rs63751229
Map	rs63751229
PheGenI	rs63751229
Biobank	rs63751229
1000 genomes	rs63751229
hgdp	rs63751229
ensembl	rs63751229
geneview	rs63751229
scholar	rs63751229
google	rs63751229
pharmgkb	rs63751229
gwascentral	rs63751229
openSNP	rs63751229
23andMe	rs63751229
SNPshot	rs63751229
SNPdbe	rs63751229
MSV3d	rs63751229
GWAS Ctlg	rs63751229

Max Magnitude

9

rs63751229, also known as P267S or Pro267Ser, is a SNP in the presenilin 1 PSEN1 gene.

The rare rs63751229(T) allele is considered causative for early-onset Alzheimer's disease.[PMID 7550356]

OMIM	104311
Desc
Variant	0011
Related	also

ClinVar
Risk	rs63751229(T;T)
Alt	rs63751229(T;T)
Reference	Rs63751229(C;C)
Significance	Pathogenic
Disease	Alzheimer disease not provided
Variation	info
Gene	PSEN1
CLNDBN	Alzheimer disease, type 3 not provided
Reversed	0
HGVS	NC_000014.8:g.73664768C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019762.27, RCV000084371.1,