rs80356723
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs80356723(A;A) |
| Make rs80356723(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 11022292 |
| Gene | TARDBP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80356723 |
| dbSNP (classic) | rs80356723 |
| ClinGen | rs80356723 |
| ebi | rs80356723 |
| HLI | rs80356723 |
| Exac | rs80356723 |
| Gnomad | rs80356723 |
| Varsome | rs80356723 |
| LitVar | rs80356723 |
| Map | rs80356723 |
| PheGenI | rs80356723 |
| Biobank | rs80356723 |
| 1000 genomes | rs80356723 |
| hgdp | rs80356723 |
| ensembl | rs80356723 |
| geneview | rs80356723 |
| scholar | rs80356723 |
| rs80356723 | |
| pharmgkb | rs80356723 |
| gwascentral | rs80356723 |
| openSNP | rs80356723 |
| 23andMe | rs80356723 |
| SNPshot | rs80356723 |
| SNPdbe | rs80356723 |
| MSV3d | rs80356723 |
| GWAS Ctlg | rs80356723 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80356723(A;A) rs80356723(C;C) |
| Alt | rs80356723(A;A) rs80356723(C;C) |
| Reference | Rs80356723(G;G) |
| Significance | Pathogenic |
| Disease | Amyotrophic lateral sclerosis type 10 |
| Variation | info |
| Gene | TARDBP |
| CLNDBN | Amyotrophic lateral sclerosis type 10 |
| Reversed | 0 |
| HGVS | NC_000001.10:g.11082349G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000020674.4, |
[PMID 19236453] TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations.
