rs63750868
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) | 7 | Considered a pathogenic mutation for Alzheimer's disease |
| (T;T) | 0 | common/normal |
| Make rs63750868(C;C) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 21 |
| Position | 25891789 |
| Gene | APP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63750868 |
| dbSNP (classic) | rs63750868 |
| ClinGen | rs63750868 |
| ebi | rs63750868 |
| HLI | rs63750868 |
| Exac | rs63750868 |
| Gnomad | rs63750868 |
| Varsome | rs63750868 |
| LitVar | rs63750868 |
| Map | rs63750868 |
| PheGenI | rs63750868 |
| Biobank | rs63750868 |
| 1000 genomes | rs63750868 |
| hgdp | rs63750868 |
| ensembl | rs63750868 |
| geneview | rs63750868 |
| scholar | rs63750868 |
| rs63750868 | |
| pharmgkb | rs63750868 |
| gwascentral | rs63750868 |
| openSNP | rs63750868 |
| 23andMe | rs63750868 |
| SNPshot | rs63750868 |
| SNPdbe | rs63750868 |
| MSV3d | rs63750868 |
| GWAS Ctlg | rs63750868 |
| Max Magnitude | 7 |
rs63750868, also known as c.2144T>C, p.Val715Ala or V715A, represents a rare mutation in the APP gene.
Inherited dominantly, the minor allele is considered pathogenic for Alzheimer's disease; for more information, see AlzForum or AD&FTDMDB.
| ClinVar | |
|---|---|
| Risk | rs63750868(C;C) |
| Alt | rs63750868(C;C) |
| Reference | Rs63750868(T;T) |
| Significance | Untested |
| Disease | not provided |
| Variation | info |
| Gene | APP |
| CLNDBN | not provided |
| Reversed | 1 |
| HGVS | NC_000021.8:g.27264101A>G |
| CLNSRC | |
| CLNACC | RCV000084571.1, |
