rs63751039
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 7 | Significantly increased risk for Alzheimer's disease |
| Make rs63751039(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 21 |
| Position | 25891855 |
| Gene | APP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63751039 |
| dbSNP (classic) | rs63751039 |
| ClinGen | rs63751039 |
| ebi | rs63751039 |
| HLI | rs63751039 |
| Exac | rs63751039 |
| Gnomad | rs63751039 |
| Varsome | rs63751039 |
| LitVar | rs63751039 |
| Map | rs63751039 |
| PheGenI | rs63751039 |
| Biobank | rs63751039 |
| 1000 genomes | rs63751039 |
| hgdp | rs63751039 |
| ensembl | rs63751039 |
| geneview | rs63751039 |
| scholar | rs63751039 |
| rs63751039 | |
| pharmgkb | rs63751039 |
| gwascentral | rs63751039 |
| openSNP | rs63751039 |
| 23andMe | rs63751039 |
| SNPshot | rs63751039 |
| SNPdbe | rs63751039 |
| MSV3d | rs63751039 |
| GWAS Ctlg | rs63751039 |
| Max Magnitude | 7 |
rs63751039, also known as c.2078A>G, p.Glu693Gly and E693G, represents a rare mutation in the APP gene.
Inherited dominantly, the minor allele is considered pathogenic for a form of Alzheimer's disease, with onset between 50 - 65 years. For more information, see OMIM, ClinVar or AlzForum.
Reported in [PMID 28350801
] as a "definitely" pathogenic mutation for early-onset Alzheimer's disease.
| ClinVar | |
|---|---|
| Risk | rs63751039(G;G) |
| Alt | rs63751039(G;G) |
| Reference | Rs63751039(A;A) |
| Significance | Pathogenic |
| Disease | Alzheimer disease Cerebral amyloid angiopathy Alzheimer's disease not provided |
| Variation | info |
| Gene | APP |
| CLNDBN | Alzheimer disease, type 1 Cerebral amyloid angiopathy, APP-related Alzheimer's disease not provided |
| Reversed | 1 |
| HGVS | NC_000021.8:g.27264167T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019725.27, RCV000019726.27, RCV000020307.2, RCV000084563.1, |
[PMID 1415269] Linkage and mutational analysis of familial Alzheimer disease kindreds for the APP gene region.
[PMID 10821838] Substitutions at codon 22 of Alzheimer's abeta peptide induce diverse conformational changes and apoptotic effects in human cerebral endothelial cells.
[PMID 11528419] The 'Arctic' APP mutation (E693G) causes Alzheimer's disease by enhanced Abeta protofibril formation.
[PMID 15502844] Aggressive amyloidosis in mice expressing human amyloid peptides with the Arctic mutation.
[PMID 18413473] Clinical and neuropathological features of the arctic APP gene mutation causing early-onset Alzheimer disease.
