rs63750851
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 7 | Early-onset Alzheimer's disease (possible) |
(T;T) | 0 | common/normal |
Make rs63750851(C;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 21 |
Position | 25891786 |
Gene | APP |
is a | snp |
is | mentioned by |
dbSNP | rs63750851 |
dbSNP (classic) | rs63750851 |
ClinGen | rs63750851 |
ebi | rs63750851 |
HLI | rs63750851 |
Exac | rs63750851 |
Gnomad | rs63750851 |
Varsome | rs63750851 |
LitVar | rs63750851 |
Map | rs63750851 |
PheGenI | rs63750851 |
Biobank | rs63750851 |
1000 genomes | rs63750851 |
hgdp | rs63750851 |
ensembl | rs63750851 |
geneview | rs63750851 |
scholar | rs63750851 |
rs63750851 | |
pharmgkb | rs63750851 |
gwascentral | rs63750851 |
openSNP | rs63750851 |
23andMe | rs63750851 |
SNPshot | rs63750851 |
SNPdbe | rs63750851 |
MSV3d | rs63750851 |
GWAS Ctlg | rs63750851 |
Max Magnitude | 7 |
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, |