rs63750399
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 7 | Mutation considered pathogenic for Alzheimer disease |
| (A;T) | 7 | Mutation considered pathogenic for Alzheimer disease |
| Make rs63750399(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 21 |
| Position | 25891787 |
| Gene | APP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63750399 |
| dbSNP (classic) | rs63750399 |
| ClinGen | rs63750399 |
| ebi | rs63750399 |
| HLI | rs63750399 |
| Exac | rs63750399 |
| Gnomad | rs63750399 |
| Varsome | rs63750399 |
| LitVar | rs63750399 |
| Map | rs63750399 |
| PheGenI | rs63750399 |
| Biobank | rs63750399 |
| 1000 genomes | rs63750399 |
| hgdp | rs63750399 |
| ensembl | rs63750399 |
| geneview | rs63750399 |
| scholar | rs63750399 |
| rs63750399 | |
| pharmgkb | rs63750399 |
| gwascentral | rs63750399 |
| openSNP | rs63750399 |
| 23andMe | rs63750399 |
| SNPshot | rs63750399 |
| SNPdbe | rs63750399 |
| MSV3d | rs63750399 |
| GWAS Ctlg | rs63750399 |
| Max Magnitude | 7 |
rs63750399 represents two mutations in the APP gene. The c.2146A>G is also known as p.Ile716Val or I716V; the c.2146A>T mutation is also known as p.Ile716Phe or I716F.
Both mutations are considered dominantly inherited pathogenic mutations leading to Alzheimer's disease. For information about I716V, see AlzForum or OMIM; for information about I716F, see AlzForum.
| ClinVar | |
|---|---|
| Risk | rs63750399(G;G) |
| Alt | rs63750399(G;G) |
| Reference | Rs63750399(A;A) |
| Significance | Pathogenic |
| Disease | Alzheimer disease not provided |
| Variation | info |
| Gene | APP |
| CLNDBN | Alzheimer disease, type 1 not provided |
| Reversed | 1 |
| HGVS | NC_000021.8:g.27264099T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019723.27, RCV000084573.1, |
