rs4884357
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs4884357(A;A) |
| Make rs4884357(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 11022301 |
| Gene | TARDBP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4884357 |
| dbSNP (classic) | rs4884357 |
| ClinGen | rs4884357 |
| ebi | rs4884357 |
| HLI | rs4884357 |
| Exac | rs4884357 |
| Gnomad | rs4884357 |
| Varsome | rs4884357 |
| LitVar | rs4884357 |
| Map | rs4884357 |
| PheGenI | rs4884357 |
| Biobank | rs4884357 |
| 1000 genomes | rs4884357 |
| hgdp | rs4884357 |
| ensembl | rs4884357 |
| geneview | rs4884357 |
| scholar | rs4884357 |
| rs4884357 | |
| pharmgkb | rs4884357 |
| gwascentral | rs4884357 |
| openSNP | rs4884357 |
| 23andMe | rs4884357 |
| SNPshot | rs4884357 |
| SNPdbe | rs4884357 |
| MSV3d | rs4884357 |
| GWAS Ctlg | rs4884357 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs4884357(A;A) |
| Alt | rs4884357(A;A) |
| Reference | Rs4884357(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.11082358G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000005543.4, |
[PMID 18396105
] TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis.
