rs63750973
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 8 | Considered pathogenic for an early-onset form of Alzheimer's disease |
| Make rs63750973(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 21 |
| Position | 25891792 |
| Gene | APP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63750973 |
| dbSNP (classic) | rs63750973 |
| ClinGen | rs63750973 |
| ebi | rs63750973 |
| HLI | rs63750973 |
| Exac | rs63750973 |
| Gnomad | rs63750973 |
| Varsome | rs63750973 |
| LitVar | rs63750973 |
| Map | rs63750973 |
| PheGenI | rs63750973 |
| Biobank | rs63750973 |
| 1000 genomes | rs63750973 |
| hgdp | rs63750973 |
| ensembl | rs63750973 |
| geneview | rs63750973 |
| scholar | rs63750973 |
| rs63750973 | |
| pharmgkb | rs63750973 |
| gwascentral | rs63750973 |
| openSNP | rs63750973 |
| 23andMe | rs63750973 |
| SNPshot | rs63750973 |
| SNPdbe | rs63750973 |
| MSV3d | rs63750973 |
| GWAS Ctlg | rs63750973 |
| Max Magnitude | 8 |
rs63750973, also known as c.2141C>T, p.Thr714Ile or T714I, represents a rare mutation in the APP gene.
Inherited dominantly, the rare minor allele is considered pathogenic for an aggressive, early-onset form of Alzheimer's disease; for more information, see ClinVar, AlzForum or OMIM.
| ClinVar | |
|---|---|
| Risk | rs63750973(T;T) |
| Alt | rs63750973(T;T) |
| Reference | Rs63750973(C;C) |
| 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.27264104G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019728.26, RCV000084569.1, |
