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rs63750325

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;T) 7 Alzheimer's disease
(T;T) 0 common/normal


Make rs63750325(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position73171022
GenePSEN1
is asnp
is mentioned by
dbSNPrs63750325
dbSNP (classic)rs63750325
ClinGenrs63750325
ebirs63750325
HLIrs63750325
Exacrs63750325
Gnomadrs63750325
Varsomers63750325
LitVarrs63750325
Maprs63750325
PheGenIrs63750325
Biobankrs63750325
1000 genomesrs63750325
hgdprs63750325
ensemblrs63750325
geneviewrs63750325
scholarrs63750325
googlers63750325
pharmgkbrs63750325
gwascentralrs63750325
openSNPrs63750325
23andMers63750325
23andMe allrs63750325
SNPshotrs63750325
SNPdbers63750325
MSV3drs63750325
GWAS Ctlgrs63750325
Max Magnitude7

rs63750325, also known as c.313T>A, Phe105Ile or F105I, is a SNP in the presenilin 1 PSEN1 gene.

Inherited as an autosomal dominant, the rare rs63750325(a) allele is considered pathogenic for early-onset Alzheimer's disease in AlzForum.

Reported in [PMID 28350801OA-icon.png] to be a "definitely" pathogenic mutation.

ClinVar
Risk rs63750325(A;A)
Alt rs63750325(A;A)
Reference Rs63750325(T;T)
Significance Untested
Disease not provided
Variation info
Gene PSEN1
CLNDBN not provided
Reversed 0
HGVS NC_000014.8:g.73637730T>A
CLNSRC
CLNACC RCV000084290.1,