rs63750445
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs63750445(G;T) |
| Make rs63750445(T;T) |
| Reference | GRCh37 37.1/132 |
| Chromosome | 21 |
| Position | 27269939 |
| Gene | APP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63750445 |
| dbSNP (classic) | rs63750445 |
| ClinGen | rs63750445 |
| ebi | rs63750445 |
| HLI | rs63750445 |
| Exac | rs63750445 |
| Gnomad | rs63750445 |
| Varsome | rs63750445 |
| LitVar | rs63750445 |
| Map | rs63750445 |
| PheGenI | rs63750445 |
| Biobank | rs63750445 |
| 1000 genomes | rs63750445 |
| hgdp | rs63750445 |
| ensembl | rs63750445 |
| geneview | rs63750445 |
| scholar | rs63750445 |
| rs63750445 | |
| pharmgkb | rs63750445 |
| gwascentral | rs63750445 |
| openSNP | rs63750445 |
| 23andMe | rs63750445 |
| SNPshot | rs63750445 |
| SNPdbe | rs63750445 |
| MSV3d | rs63750445 |
| GWAS Ctlg | rs63750445 |
| Status | Deleted |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs63750445(T;T) |
| Alt | rs63750445(T;T) |
| Reference | Rs63750445(G;G) |
| Significance | Pathogenic |
| Disease | Alzheimer disease Alzheimer's disease |
| Variation | info |
| Gene | APP |
| CLNDBN | Alzheimer disease, type 1 Alzheimer's disease |
| Reversed | 1 |
| HGVS | NC_000021.8:g.27269939C>A |
| CLNSRC | OMIM Allelic Variant GeneReviews |
| CLNACC | SCV000040018.1, SCV000040680.1, |
[PMID 88] The oxygen affinity of haemoglobin Tak, a variant with an elongated beta chain.
[PMID 1302033] A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid.
[PMID 1465129] Mutation of the beta-amyloid precursor protein in familial Alzheimer's disease increases beta-protein production.
[PMID 7489411] The Swedish mutation causes early-onset Alzheimer's disease by beta-secretase cleavage within the secretory pathway.
[PMID 8012386] Altered cleavage and secretion of a recombinant beta-APP bearing the Swedish familial Alzheimer's disease mutation.
[PMID 9371838
] Two amyloid precursor protein transgenic mouse models with Alzheimer disease-like pathology.
[PMID 9796810] Neuron loss in APP transgenic mice.
