rs63750424
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 7 | Frontotemporal dementia (predicted) |
| Make rs63750424(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 46024061 |
| Gene | MAPT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63750424 |
| dbSNP (classic) | rs63750424 |
| ClinGen | rs63750424 |
| ebi | rs63750424 |
| HLI | rs63750424 |
| Exac | rs63750424 |
| Gnomad | rs63750424 |
| Varsome | rs63750424 |
| LitVar | rs63750424 |
| Map | rs63750424 |
| PheGenI | rs63750424 |
| Biobank | rs63750424 |
| 1000 genomes | rs63750424 |
| hgdp | rs63750424 |
| ensembl | rs63750424 |
| geneview | rs63750424 |
| scholar | rs63750424 |
| rs63750424 | |
| pharmgkb | rs63750424 |
| gwascentral | rs63750424 |
| openSNP | rs63750424 |
| 23andMe | rs63750424 |
| SNPshot | rs63750424 |
| SNPdbe | rs63750424 |
| MSV3d | rs63750424 |
| GWAS Ctlg | rs63750424 |
| Max Magnitude | 7 |
aka c.1216C>T (p.Arg406Trp or R406W)
The R406W mutation in the MAPT gene, rs63750424(T), is considered to be inherited in a dominant manner and to lead to frontotemporal dementia, in many ways akin to some forms of Alzheimer's disease.OMIM
| ClinVar | |
|---|---|
| Risk | rs63750424(T;T) |
| Alt | rs63750424(T;T) |
| Reference | Rs63750424(C;C) |
| Significance | Pathogenic |
| Disease | Frontotemporal dementia not provided |
| Variation | info |
| Gene | MAPT |
| CLNDBN | Frontotemporal dementia not provided |
| Reversed | 0 |
| HGVS | NC_000017.10:g.44101427C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000015316.26, RCV000084554.1, |
