rs63749962

plus

Geno	Mag	Summary
(C;T)	7	Alzheimer's disease (reported)
(G;T)	7	Alzheimer's disease (reported)
(T;T)	0	common/normal

Make rs63749962(C;C)

Reference

GRCh38.p7 38.3/150

Chromosome

14

Position

73173570

Gene

PSEN1

is a	snp
is	mentioned by
dbSNP	rs63749962
dbSNP (classic)	rs63749962
ClinGen	rs63749962
ebi	rs63749962
HLI	rs63749962
Exac	rs63749962
Gnomad	rs63749962
Varsome	rs63749962
LitVar	rs63749962
Map	rs63749962
PheGenI	rs63749962
Biobank	rs63749962
1000 genomes	rs63749962
hgdp	rs63749962
ensembl	rs63749962
geneview	rs63749962
scholar	rs63749962
google	rs63749962
pharmgkb	rs63749962
gwascentral	rs63749962
openSNP	rs63749962
23andMe	rs63749962
SNPshot	rs63749962
SNPdbe	rs63749962
MSV3d	rs63749962
GWAS Ctlg	rs63749962

Max Magnitude

7

rs63749962, also known as c.343T>C, Y115H or Tyr115His, or alternatively as c.343T>G, Y115D or Tyr115Asp, is a SNP in the presenilin 1 PSEN1 gene.

Inherited as an autosomal dominant, both the rare rs63749962(C) and rs63749962(G) alleles are considered pathogenic for early-onset Alzheimer's disease according to AlzForum.

Reported in [PMID 28350801 ] to be a "definitely" pathogenic mutation.

ClinVar
Risk	rs63749962(G;G)
Alt	rs63749962(G;G)
Reference	Rs63749962(T;T)
Significance	Untested
Disease	not provided
Variation	info
Gene	PSEN1
CLNDBN	not provided
Reversed	0
HGVS	NC_000014.8:g.73640278T>G
CLNSRC
CLNACC	RCV000084294.1,