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rs63750064

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 6 Significantly increased risk for Alzheimer's disease
(C;G) 6 Significantly increased risk for Alzheimer's disease
(G;G) 0 common/normal


Make rs63750064(A;A)
ReferenceGRCh38.p7 38.3/149
Chromosome21
Position25897605
GeneAPP
is asnp
is mentioned by
dbSNPrs63750064
dbSNP (classic)rs63750064
ClinGenrs63750064
ebirs63750064
HLIrs63750064
Exacrs63750064
Gnomadrs63750064
Varsomers63750064
LitVarrs63750064
Maprs63750064
PheGenIrs63750064
Biobankrs63750064
1000 genomesrs63750064
hgdprs63750064
ensemblrs63750064
geneviewrs63750064
scholarrs63750064
googlers63750064
pharmgkbrs63750064
gwascentralrs63750064
openSNPrs63750064
23andMers63750064
23andMe allrs63750064
SNPshotrs63750064
SNPdbers63750064
MSV3drs63750064
GWAS Ctlgrs63750064
Max Magnitude6

rs63750064, also known as D678H and D678N, represents two rare mutations in the APP gene.

The G>C mutation for this SNP leads to D678H, apparently associated with early-onset Alzheimer's disease, inherited dominantly, although perhaps based on only one publication.AlzForum

The G>A mutation for this SNP leads to D678N, apparently also associated with early-onset Alzheimer's disease, inherited dominantly, and also based on only one publication.AlzForum


ClinVar
Risk rs63750064(A;A)
Alt rs63750064(A;A)
Reference Rs63750064(G;G)
Significance Untested
Disease not provided
Variation info
Gene APP
CLNDBN not provided
Reversed 1
HGVS NC_000021.8:g.27269917C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000084560.1,