rs794729671
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (-;T) | 7 | Frontotemporal dementia mutation |
| Make rs794729671(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 17 |
| Position | 44352081 |
| Gene | GRN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs794729671 |
| dbSNP (classic) | rs794729671 |
| ClinGen | rs794729671 |
| ebi | rs794729671 |
| HLI | rs794729671 |
| Exac | rs794729671 |
| Gnomad | rs794729671 |
| Varsome | rs794729671 |
| LitVar | rs794729671 |
| Map | rs794729671 |
| PheGenI | rs794729671 |
| Biobank | rs794729671 |
| 1000 genomes | rs794729671 |
| hgdp | rs794729671 |
| ensembl | rs794729671 |
| geneview | rs794729671 |
| scholar | rs794729671 |
| rs794729671 | |
| pharmgkb | rs794729671 |
| gwascentral | rs794729671 |
| openSNP | rs794729671 |
| 23andMe | rs794729671 |
| SNPshot | rs794729671 |
| SNPdbe | rs794729671 |
| MSV3d | rs794729671 |
| GWAS Ctlg | rs794729671 |
| Max Magnitude | 7 |
rs794729671, also known as c.1246dupT and p.Cys416Leufs, represents a very rare mutation in the GRN gene on chromosome 17.
The rs794729671(T) allele is reported in ClinVar as a dominant mutation pathogenic for frontotemporal dementia.
| ClinVar | |
|---|---|
| Risk | rs794729671(T;T) |
| Alt | rs794729671(T;T) |
| Reference | Rs794729671(-;-) |
| Significance | Pathogenic |
| Disease | Frontotemporal dementia |
| Variation | info |
| Gene | GRN |
| CLNDBN | Frontotemporal dementia |
| Reversed | 0 |
| HGVS | NC_000017.10:g.42429449dupT |
| CLNSRC | |
| CLNACC | RCV000185613.1, |
