rs63750579
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 7 | Cerebral Amyloid Angiopathy |
| (C;G) | 6 | Cerebral Amyloid Angiopathy |
| (G;G) | 0 | common in clinvar |
| Make rs63750579(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 21 |
| Position | 25891856 |
| Gene | APP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63750579 |
| dbSNP (classic) | rs63750579 |
| ClinGen | rs63750579 |
| ebi | rs63750579 |
| HLI | rs63750579 |
| Exac | rs63750579 |
| Gnomad | rs63750579 |
| Varsome | rs63750579 |
| LitVar | rs63750579 |
| Map | rs63750579 |
| PheGenI | rs63750579 |
| Biobank | rs63750579 |
| 1000 genomes | rs63750579 |
| hgdp | rs63750579 |
| ensembl | rs63750579 |
| geneview | rs63750579 |
| scholar | rs63750579 |
| rs63750579 | |
| pharmgkb | rs63750579 |
| gwascentral | rs63750579 |
| openSNP | rs63750579 |
| 23andMe | rs63750579 |
| SNPshot | rs63750579 |
| SNPdbe | rs63750579 |
| MSV3d | rs63750579 |
| GWAS Ctlg | rs63750579 |
| Max Magnitude | 7 |
APP gene mutations: either c.2077G>A, p.Glu693Lys and E693K, or, c.2077G>C, p.Glu693Gln and E693Q. The former is also known as the 'Italian' variant and the latter as the 'Dutch' variant.
Both are reported in OMIM and AlzForum as pathogenic for cerebral amyloid angiopathy; the Italian variant is reported to have an onset at a significantly later age than the Dutch variant.
| ClinVar | |
|---|---|
| Risk | rs63750579(A;A) rs63750579(C;C) |
| Alt | rs63750579(A;A) rs63750579(C;C) |
| Reference | Rs63750579(G;G) |
| Significance | Pathogenic |
| Disease | Cerebral amyloid angiopathy not provided |
| Variation | info |
| Gene | APP |
| CLNDBN | Cerebral amyloid angiopathy, APP-related not provided |
| Reversed | 1 |
| HGVS | NC_000021.8:g.27264168C>G; NC_000021.8:g.27264168C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019713.27, RCV000019727.27, RCV000084562.1, |
