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rs63750301

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;T) 8.8 Alzheimer's disease, early-onset (reported)
Make rs63750301(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position73198052
GenePSEN1
is asnp
is mentioned by
dbSNPrs63750301
dbSNP (classic)rs63750301
ClinGenrs63750301
ebirs63750301
HLIrs63750301
Exacrs63750301
Gnomadrs63750301
Varsomers63750301
LitVarrs63750301
Maprs63750301
PheGenIrs63750301
Biobankrs63750301
1000 genomesrs63750301
hgdprs63750301
ensemblrs63750301
geneviewrs63750301
scholarrs63750301
googlers63750301
pharmgkbrs63750301
gwascentralrs63750301
openSNPrs63750301
23andMers63750301
23andMe allrs63750301
SNPshotrs63750301
SNPdbers63750301
MSV3drs63750301
GWAS Ctlgrs63750301
Max Magnitude8.8

c.791C>T (p.Pro264Leu)

Atypical presentation of Alzheimer's; see AlzForum

ClinVar
Risk rs63750301(T;T)
Alt rs63750301(T;T)
Reference Rs63750301(C;C)
Significance Probable-Pathogenic
Disease not provided Dementia Mental deterioration
Variation info
Gene PSEN1
CLNDBN not provided Dementia Mental deterioration
Reversed 0
HGVS NC_000014.8:g.73664760C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000084370.1, RCV000415376.1,