Have questions? Visit https://www.reddit.com/r/SNPedia

rs63750391

From SNPedia

Orientationplus
Stabilizedplus
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)
ReferenceGRCh38 38.1/141
Chromosome14
Position73173665
GenePSEN1
is asnp
is mentioned by
dbSNPrs63750391
ClinGenrs63750391
ebirs63750391
HLIrs63750391
Exacrs63750391
Varsomers63750391
Maprs63750391
PheGenIrs63750391
hapmaprs63750391
1000 genomesrs63750391
hgdprs63750391
ensemblrs63750391
gopubmedrs63750391
geneviewrs63750391
scholarrs63750391
googlers63750391
pharmgkbrs63750391
gwascentralrs63750391
openSNPrs63750391
23andMers63750391
23andMe allrs63750391
SNP Nexus

SNPshotrs63750391
SNPdbers63750391
MSV3drs63750391
GWAS Ctlgrs63750391
Max Magnitude7

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 28350801OA-icon.png] to be a "definitely" pathogenic mutation.

OMIM104311
Desc
Variant0015
Relatedalso
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,