rs63750227

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	8.8	Alzheimer's disease, early-onset (reported)
(G;G)	0	common/normal

Make rs63750227(A;A)

Reference

GRCh38.p7 38.3/150

Chromosome

14

Position

73217221

Gene

PSEN1

is a	snp
is	mentioned by
dbSNP	rs63750227
dbSNP (classic)	rs63750227
ClinGen	rs63750227
ebi	rs63750227
HLI	rs63750227
Exac	rs63750227
Gnomad	rs63750227
Varsome	rs63750227
LitVar	rs63750227
Map	rs63750227
PheGenI	rs63750227
Biobank	rs63750227
1000 genomes	rs63750227
hgdp	rs63750227
ensembl	rs63750227
geneview	rs63750227
scholar	rs63750227
google	rs63750227
pharmgkb	rs63750227
gwascentral	rs63750227
openSNP	rs63750227
23andMe	rs63750227
SNPshot	rs63750227
SNPdbe	rs63750227
MSV3d	rs63750227
GWAS Ctlg	rs63750227

Max Magnitude

8.8

c.1225G>A (p.Ala409Thr)

ClinVar
Risk	rs63750227(A;A)
Alt	rs63750227(A;A)
Reference	Rs63750227(G;G)
Significance	Probable-Pathogenic
Disease	not provided
Variation	info
Gene	PSEN1
CLNDBN	not provided
Reversed	0
HGVS	NC_000014.8:g.73683929G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000084406.1,