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rs63750851

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;T) 7 Early-onset Alzheimer's disease (possible)
(T;T) 0 common/normal


Make rs63750851(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome21
Position25891786
GeneAPP
is asnp
is mentioned by
dbSNPrs63750851
dbSNP (classic)rs63750851
ClinGenrs63750851
ebirs63750851
HLIrs63750851
Exacrs63750851
Gnomadrs63750851
Varsomers63750851
LitVarrs63750851
Maprs63750851
PheGenIrs63750851
Biobankrs63750851
1000 genomesrs63750851
hgdprs63750851
ensemblrs63750851
geneviewrs63750851
scholarrs63750851
googlers63750851
pharmgkbrs63750851
gwascentralrs63750851
openSNPrs63750851
23andMers63750851
23andMe allrs63750851
SNPshotrs63750851
SNPdbers63750851
MSV3drs63750851
GWAS Ctlgrs63750851
Max Magnitude7

Known as I716T, and reported in AlzForum based on a 2002 abstract to be a pathogenic mutation for early-onset Alzheimer's disease.


ClinVar
Risk rs63750851(C;C)
Alt rs63750851(C;C)
Reference Rs63750851(T;T)
Significance Untested
Disease not provided
Variation info
Gene APP
CLNDBN not provided
Reversed 1
HGVS NC_000021.8:g.27264098A>G
CLNSRC
CLNACC RCV000084574.1,