rs533813519
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 7 | Early-onset Alzheimer's disease (predicted as possible) |
(C;C) | 0 | common/normal |
Make rs533813519(A;A) |
Reference | GRCh38.p7 38.3/151 |
Chromosome | 1 |
Position | 226888097 |
Gene | PSEN2 |
is a | snp |
is | mentioned by |
dbSNP | rs533813519 |
dbSNP (classic) | rs533813519 |
ClinGen | rs533813519 |
ebi | rs533813519 |
HLI | rs533813519 |
Exac | rs533813519 |
Gnomad | rs533813519 |
Varsome | rs533813519 |
LitVar | rs533813519 |
Map | rs533813519 |
PheGenI | rs533813519 |
Biobank | rs533813519 |
1000 genomes | rs533813519 |
hgdp | rs533813519 |
ensembl | rs533813519 |
geneview | rs533813519 |
scholar | rs533813519 |
rs533813519 | |
pharmgkb | rs533813519 |
gwascentral | rs533813519 |
openSNP | rs533813519 |
23andMe | rs533813519 |
SNPshot | rs533813519 |
SNPdbe | rs533813519 |
MSV3d | rs533813519 |
GWAS Ctlg | rs533813519 |
Max Magnitude | 7 |
aka c.505C>A, p.His169Asn or H169N
The rare rs533813519(C) mutation in the PSEN2 gene was observed in a female Korean patient with early-onset Alzheimer's disease and was considered to be associated and most likely inherited in an autosomal dominant manner.[PMID 25323700]