rs63749891

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;G)	9	early-onset Alzheimers disease
(G;G)	0	common in clinvar
(G;T)	8.8	Alzheimer's disease, early-onset (reported)

Make rs63749891(C;C)

Reference

GRCh38 38.1/141

Chromosome

14

Position

73198094

Gene

PSEN1

is a	snp
is	mentioned by
dbSNP	rs63749891
dbSNP (classic)	rs63749891
ClinGen	rs63749891
ebi	rs63749891
HLI	rs63749891
Exac	rs63749891
Gnomad	rs63749891
Varsome	rs63749891
LitVar	rs63749891
Map	rs63749891
PheGenI	rs63749891
Biobank	rs63749891
1000 genomes	rs63749891
hgdp	rs63749891
ensembl	rs63749891
geneview	rs63749891
scholar	rs63749891
google	rs63749891
pharmgkb	rs63749891
gwascentral	rs63749891
openSNP	rs63749891
23andMe	rs63749891
SNPshot	rs63749891
SNPdbe	rs63749891
MSV3d	rs63749891
GWAS Ctlg	rs63749891

Max Magnitude

9

rs63749891 represents a SNP in the presenilin 1 PSEN1 gene. There are two known mutations considered c.833G>T (p.Arg278Ile)

Inherited as an autosomal dominant, there are three known mutations in rs63749891 associated with early-onset Alzheimer's disease[PMID 9172170]:

• rs63749891(T), also known as c.833G>T, p.Arg278Ile or R278I (ClinVar)
• rs63749891(C), also known as c.833G>C, p.Arg278Thr or R278T (ClinVar)
• rs63749891(A), also known as c.833G>A, p.Arg278Lys or R278K (DIAN)

OMIM	104311
Desc
Variant	0017
Related	also

OMIM	104311
Desc
Variant	0030
Related	also

ClinVar
Risk	rs63749891(C;C) rs63749891(T;T)
Alt	rs63749891(C;C) rs63749891(T;T)
Reference	Rs63749891(G;G)
Significance	Pathogenic
Disease	Alzheimer disease Alzheimer disease not provided
Variation	info
Gene	PSEN1
CLNDBN	Alzheimer disease, familial, with spastic paraparesis and unusual plaques Alzheimer disease, type 3 not provided
Reversed	0
HGVS	NC_000014.8:g.73664802G>C; NC_000014.8:g.73664802G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019769.27, RCV000019782.29, RCV000084379.1,