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

rs63750868

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;T) 7 Considered a pathogenic mutation for Alzheimer's disease
(T;T) 0 common/normal


Make rs63750868(C;C)
ReferenceGRCh38.p7 38.3/149
Chromosome21
Position25891789
GeneAPP
is asnp
is mentioned by
dbSNPrs63750868
dbSNP (classic)rs63750868
ClinGenrs63750868
ebirs63750868
HLIrs63750868
Exacrs63750868
Gnomadrs63750868
Varsomers63750868
LitVarrs63750868
Maprs63750868
PheGenIrs63750868
Biobankrs63750868
1000 genomesrs63750868
hgdprs63750868
ensemblrs63750868
geneviewrs63750868
scholarrs63750868
googlers63750868
pharmgkbrs63750868
gwascentralrs63750868
openSNPrs63750868
23andMers63750868
23andMe allrs63750868
SNPshotrs63750868
SNPdbers63750868
MSV3drs63750868
GWAS Ctlgrs63750868
Max Magnitude7

rs63750868, also known as c.2144T>C, p.Val715Ala or V715A, represents a rare mutation in the APP gene.

Inherited dominantly, the minor allele is considered pathogenic for Alzheimer's disease; for more information, see AlzForum or AD&FTDMDB.


ClinVar
Risk rs63750868(C;C)
Alt rs63750868(C;C)
Reference Rs63750868(T;T)
Significance Untested
Disease not provided
Variation info
Gene APP
CLNDBN not provided
Reversed 1
HGVS NC_000021.8:g.27264101A>G
CLNSRC
CLNACC RCV000084571.1,