rs281865161
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (GA;GA) | 0 | common in clinvar |
| (GA;TC) | 8 | Alzheimer's disease, familial |
| Make rs281865161(TC;TC) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 21 |
| Position | 25897626 |
| Gene | APP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs281865161 |
| dbSNP (classic) | rs281865161 |
| ClinGen | rs281865161 |
| ebi | rs281865161 |
| HLI | rs281865161 |
| Exac | rs281865161 |
| Gnomad | rs281865161 |
| Varsome | rs281865161 |
| LitVar | rs281865161 |
| Map | rs281865161 |
| PheGenI | rs281865161 |
| Biobank | rs281865161 |
| 1000 genomes | rs281865161 |
| hgdp | rs281865161 |
| ensembl | rs281865161 |
| geneview | rs281865161 |
| scholar | rs281865161 |
| rs281865161 | |
| pharmgkb | rs281865161 |
| gwascentral | rs281865161 |
| openSNP | rs281865161 |
| 23andMe | rs281865161 |
| SNPshot | rs281865161 |
| SNPdbe | rs281865161 |
| MSV3d | rs281865161 |
| GWAS Ctlg | rs281865161 |
| Max Magnitude | 8 |
rs281865161, also known as c.2010_2011delGAinsTC (p.Lys670_Met671delinsAsnLeu), or also as K670N/M671L, represents a double mutation in the APP gene. It is also known as the 'Swedish mutation'. Inherited dominantly, the (rare) minor allele is considered pathogenic for Alzheimer's disease in both ClinVar and AlzForum.
This is reported to lead to a relatively early-onset form of Alzheimer's, with a mean age of onset of 55 years, according to an older (1992) report cited in OMIM.
| ClinVar | |
|---|---|
| Risk | rs281865161(TC;TC) |
| Alt | rs281865161(TC;TC) |
| Reference | Rs281865161(GA;GA) |
| Significance | Pathogenic |
| Disease | Alzheimer disease Alzheimer's disease not provided |
| Variation | info |
| Gene | APP |
| CLNDBN | Alzheimer disease, type 1 Alzheimer's disease not provided |
| Reversed | 1 |
| HGVS | NC_000021.8:g.27269938_27269939delTCinsGA |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000019720.27, RCV000034924.1, RCV000084589.1, |
[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.
