rs63750391

plus

Geno	Mag	Summary
(A;G)	7	Alzheimer's disease (reported; but see discussion)
(C;G)	7	Alzheimer's disease (reported; but see discussion)
(G;G)	0	common in clinvar
(G;T)	7	Alzheimer's disease (reported; but see discussion)

Make rs63750391(A;A)

Reference

GRCh38 38.1/141

Chromosome

14

Position

73173665

Gene

PSEN1

is a	snp
is	mentioned by
dbSNP	rs63750391
dbSNP (classic)	rs63750391
ClinGen	rs63750391
ebi	rs63750391
HLI	rs63750391
Exac	rs63750391
Gnomad	rs63750391
Varsome	rs63750391
LitVar	rs63750391
Map	rs63750391
PheGenI	rs63750391
Biobank	rs63750391
1000 genomes	rs63750391
hgdp	rs63750391
ensembl	rs63750391
geneview	rs63750391
scholar	rs63750391
google	rs63750391
pharmgkb	rs63750391
gwascentral	rs63750391
openSNP	rs63750391
23andMe	rs63750391
SNPshot	rs63750391
SNPdbe	rs63750391
MSV3d	rs63750391
GWAS Ctlg	rs63750391

Max Magnitude

7

Located in the PSEN1 gene, rs63750306 represents the rare variant site where all three possible single nucleotide mutations are known and considered pathogenic. The c.438G>A, c.438G>C and c.438G>T variants are all also known as p.Met146ILe or M146I.

All three mutations are considered dominantly inherited pathogenic mutations leading to early-onset Alzheimer's disease, at least according to AlzForum, but no citations are provided. In ClinVar, the G>A and G>T variants are (somewhat) annotated as pathogenic.

The G>A variant is reported in [PMID 28350801 ] to be a "definitely" pathogenic mutation.

OMIM	104311
Desc
Variant	0015
Related	also

ClinVar
Risk	rs63750391(A;A) rs63750391(T;T)
Alt	rs63750391(A;A) rs63750391(T;T)
Reference	Rs63750391(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.73640373G>A; NC_000014.8:g.73640373G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019767.26, RCV000084311.1,