rs63751223

Orientation

plus

Stabilized

plus

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

Make rs63751223(C;C)

Reference

GRCh38 38.1/141

Chromosome

14

Position

73219161

Gene

PSEN1

is a	snp
is	mentioned by
dbSNP	rs63751223
dbSNP (classic)	rs63751223
ClinGen	rs63751223
ebi	rs63751223
HLI	rs63751223
Exac	rs63751223
Gnomad	rs63751223
Varsome	rs63751223
LitVar	rs63751223
Map	rs63751223
PheGenI	rs63751223
Biobank	rs63751223
1000 genomes	rs63751223
hgdp	rs63751223
ensembl	rs63751223
geneview	rs63751223
scholar	rs63751223
google	rs63751223
pharmgkb	rs63751223
gwascentral	rs63751223
openSNP	rs63751223
23andMe	rs63751223
SNPshot	rs63751223
SNPdbe	rs63751223
MSV3d	rs63751223
GWAS Ctlg	rs63751223

Max Magnitude

9

rs63751223, also known as A426P or Ala426Pro, is a SNP in the presenilin 1 PSEN1 gene.

The rare rs63751223(C) allele is considered causative for early-onset Alzheimer's disease.[PMID 9521423]

OMIM	104311
Desc
Variant	0014
Related	also

ClinVar
Risk	rs63751223(C;C)
Alt	rs63751223(C;C)
Reference	Rs63751223(G;G)
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.73685869G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019766.28, RCV000084411.1,