rs63751163

Orientation

plus

Stabilized

plus

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

Make rs63751163(C;C)

Reference

GRCh38 38.1/141

Chromosome

14

Position

73192844

Gene

PSEN1

is a	snp
is	mentioned by
dbSNP	rs63751163
dbSNP (classic)	rs63751163
ClinGen	rs63751163
ebi	rs63751163
HLI	rs63751163
Exac	rs63751163
Gnomad	rs63751163
Varsome	rs63751163
LitVar	rs63751163
Map	rs63751163
PheGenI	rs63751163
Biobank	rs63751163
1000 genomes	rs63751163
hgdp	rs63751163
ensembl	rs63751163
geneview	rs63751163
scholar	rs63751163
google	rs63751163
pharmgkb	rs63751163
gwascentral	rs63751163
openSNP	rs63751163
23andMe	rs63751163
SNPshot	rs63751163
SNPdbe	rs63751163
MSV3d	rs63751163
GWAS Ctlg	rs63751163

Max Magnitude

9

rs63751163, also known as L250S or Leu250Ser, is a SNP in the presenilin 1 PSEN1 gene.

The rare rs63751163(C) allele is considered causative for early-onset Alzheimer's disease.[PMID 9436726]

OMIM	104311
Desc
Variant	0016
Related	also

ClinVar
Risk	rs63751163(C;C)
Alt	rs63751163(C;C)
Reference	Rs63751163(T;T)
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.73659552T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019768.27, RCV000084363.1,