rs80356715
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs80356715(C;T) |
| Make rs80356715(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 11016874 |
| Gene | TARDBP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80356715 |
| dbSNP (classic) | rs80356715 |
| ClinGen | rs80356715 |
| ebi | rs80356715 |
| HLI | rs80356715 |
| Exac | rs80356715 |
| Gnomad | rs80356715 |
| Varsome | rs80356715 |
| LitVar | rs80356715 |
| Map | rs80356715 |
| PheGenI | rs80356715 |
| Biobank | rs80356715 |
| 1000 genomes | rs80356715 |
| hgdp | rs80356715 |
| ensembl | rs80356715 |
| geneview | rs80356715 |
| scholar | rs80356715 |
| rs80356715 | |
| pharmgkb | rs80356715 |
| gwascentral | rs80356715 |
| openSNP | rs80356715 |
| 23andMe | rs80356715 |
| SNPshot | rs80356715 |
| SNPdbe | rs80356715 |
| MSV3d | rs80356715 |
| GWAS Ctlg | rs80356715 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80356715(T;T) |
| Alt | rs80356715(T;T) |
| Reference | Rs80356715(C;C) |
| Significance | Non-pathogenic |
| Disease | Amyotrophic lateral sclerosis type 10 |
| Variation | info |
| Gene | TARDBP |
| CLNDBN | Amyotrophic lateral sclerosis type 10 |
| Reversed | 0 |
| HGVS | NC_000001.11:g.11016874C>T |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000020670.1, |
[PMID 18309045
] TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis.
[PMID 18372902] TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis.
[PMID 18505686] A90V TDP-43 variant results in the aberrant localization of TDP-43 in vitro.
[PMID 18545701] TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis.
