rs63751144

Orientation

plus

Stabilized

plus

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

Make rs63751144(A;A)

Reference

GRCh38 38.1/141

Chromosome

14

Position

73186892

Gene

PSEN1

is a	snp
is	mentioned by
dbSNP	rs63751144
dbSNP (classic)	rs63751144
ClinGen	rs63751144
ebi	rs63751144
HLI	rs63751144
Exac	rs63751144
Gnomad	rs63751144
Varsome	rs63751144
LitVar	rs63751144
Map	rs63751144
PheGenI	rs63751144
Biobank	rs63751144
1000 genomes	rs63751144
hgdp	rs63751144
ensembl	rs63751144
geneview	rs63751144
scholar	rs63751144
google	rs63751144
pharmgkb	rs63751144
gwascentral	rs63751144
openSNP	rs63751144
23andMe	rs63751144
SNPshot	rs63751144
SNPdbe	rs63751144
MSV3d	rs63751144
GWAS Ctlg	rs63751144

Max Magnitude

9

rs63751144, also known as L174M or Leu174Met, is a SNP in the presenilin 1 PSEN1 gene.

The rare rs63751144(A) allele is considered causative for early-onset Alzheimer's disease.[PMID 12484344]

OMIM	104311
Desc
Variant	0025
Related	also

ClinVar
Risk	rs63751144(A;A)
Alt	rs63751144(A;A)
Reference	Rs63751144(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.73653600C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019777.28, RCV000084329.1,