rs193922916
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of an Alzheimer's disease mutation |
| (T;T) | 7 | significantly increased alzheimer's risk |
| Reference | GRCh38 38.1/141 |
| Chromosome | 21 |
| Position | 25897619 |
| Gene | APP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922916 |
| dbSNP (classic) | rs193922916 |
| ClinGen | rs193922916 |
| ebi | rs193922916 |
| HLI | rs193922916 |
| Exac | rs193922916 |
| Gnomad | rs193922916 |
| Varsome | rs193922916 |
| LitVar | rs193922916 |
| Map | rs193922916 |
| PheGenI | rs193922916 |
| Biobank | rs193922916 |
| 1000 genomes | rs193922916 |
| hgdp | rs193922916 |
| ensembl | rs193922916 |
| geneview | rs193922916 |
| scholar | rs193922916 |
| rs193922916 | |
| pharmgkb | rs193922916 |
| gwascentral | rs193922916 |
| openSNP | rs193922916 |
| 23andMe | rs193922916 |
| SNPshot | rs193922916 |
| SNPdbe | rs193922916 |
| MSV3d | rs193922916 |
| GWAS Ctlg | rs193922916 |
| Max Magnitude | 7 |
rs193922916, also known as c.2018C>T, p.Ala673Val and A673V, represents a rare mutation in the APP gene on chromosome 21.
Most APP mutations leading to Alzheimer's disease are inherited dominantly, but A673V is an exception, as it appears to be inherited recessively. For more information about this mutation, see either AlzForum or OMIM.
23andMe name: i5004476
| ClinVar | |
|---|---|
| Risk | Rs193922916(T;T) |
| Alt | Rs193922916(T;T) |
| Reference | Rs193922916(C;C) |
| Significance | Pathogenic |
| Disease | Alzheimer's disease |
| Variation | info |
| Gene | APP |
| CLNDBN | Alzheimer's disease |
| Reversed | 1 |
| HGVS | NC_000021.8:g.27269931G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000019734.26, |
