rs63751294
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs63751294(C;T) |
| Make rs63751294(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 44352404 |
| Gene | GRN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63751294 |
| dbSNP (classic) | rs63751294 |
| ClinGen | rs63751294 |
| ebi | rs63751294 |
| HLI | rs63751294 |
| Exac | rs63751294 |
| Gnomad | rs63751294 |
| Varsome | rs63751294 |
| LitVar | rs63751294 |
| Map | rs63751294 |
| PheGenI | rs63751294 |
| Biobank | rs63751294 |
| 1000 genomes | rs63751294 |
| hgdp | rs63751294 |
| ensembl | rs63751294 |
| geneview | rs63751294 |
| scholar | rs63751294 |
| rs63751294 | |
| pharmgkb | rs63751294 |
| gwascentral | rs63751294 |
| openSNP | rs63751294 |
| 23andMe | rs63751294 |
| SNPshot | rs63751294 |
| SNPdbe | rs63751294 |
| MSV3d | rs63751294 |
| GWAS Ctlg | rs63751294 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs63751294(T;T) |
| Alt | rs63751294(T;T) |
| Reference | Rs63751294(C;C) |
| Significance | Pathogenic |
| Disease | Frontotemporal dementia not provided |
| Variation | info |
| Gene | GRN |
| CLNDBN | Frontotemporal dementia, ubiquitin-positive not provided |
| Reversed | 0 |
| HGVS | NC_000017.10:g.42429772C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000017387.29, RCV000084491.1, |
[PMID 16983677
] Characteristics of frontotemporal dementia patients with a Progranulin mutation.
[PMID 17210807] Progranulin mutations in primary progressive aphasia: the PPA1 and PPA3 families.
[PMID 17522386] Clinicopathologic correlation in PGRN mutations.
[PMID 17826340] Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative.
[PMID 18703462] Distinct genetic forms of frontotemporal dementia.
