rs11689432
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs11689432(A;A) |
| Make rs11689432(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 238232864 |
| Gene | LOC151174, LOC643387 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs11689432 |
| dbSNP (classic) | rs11689432 |
| ClinGen | rs11689432 |
| ebi | rs11689432 |
| HLI | rs11689432 |
| Exac | rs11689432 |
| Gnomad | rs11689432 |
| Varsome | rs11689432 |
| LitVar | rs11689432 |
| Map | rs11689432 |
| PheGenI | rs11689432 |
| Biobank | rs11689432 |
| 1000 genomes | rs11689432 |
| hgdp | rs11689432 |
| ensembl | rs11689432 |
| geneview | rs11689432 |
| scholar | rs11689432 |
| rs11689432 | |
| pharmgkb | rs11689432 |
| gwascentral | rs11689432 |
| openSNP | rs11689432 |
| 23andMe | rs11689432 |
| SNPshot | rs11689432 |
| SNPdbe | rs11689432 |
| MSV3d | rs11689432 |
| GWAS Ctlg | rs11689432 |
| GMAF | 0.4679 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs11689432(A;A) rs11689432(C;C) |
| Alt | rs11689432(A;A) rs11689432(C;C) |
| Reference | Rs11689432(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.11082610G>A; NC_000001.10:g.11082610G>C |
| CLNSRC | GeneReviews |
| CLNACC | SCV000041201.1, SCV000041202.1, |
[PMID 18372902] TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis.
[PMID 19224587] High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis.
[PMID 19236453] TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations.
