rs63750064
From SNPedia
Orientation | minus |
Stabilized | minus |
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) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 21 |
Position | 25897605 |
Gene | APP |
is a | snp |
is | mentioned by |
dbSNP | rs63750064 |
dbSNP (classic) | rs63750064 |
ClinGen | rs63750064 |
ebi | rs63750064 |
HLI | rs63750064 |
Exac | rs63750064 |
Gnomad | rs63750064 |
Varsome | rs63750064 |
LitVar | rs63750064 |
Map | rs63750064 |
PheGenI | rs63750064 |
Biobank | rs63750064 |
1000 genomes | rs63750064 |
hgdp | rs63750064 |
ensembl | rs63750064 |
geneview | rs63750064 |
scholar | rs63750064 |
rs63750064 | |
pharmgkb | rs63750064 |
gwascentral | rs63750064 |
openSNP | rs63750064 |
23andMe | rs63750064 |
SNPshot | rs63750064 |
SNPdbe | rs63750064 |
MSV3d | rs63750064 |
GWAS Ctlg | rs63750064 |
Max Magnitude | 6 |
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, |