rs104894129
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 4 | Nemaline Myopathy 4 |
| (A;G) | 2 | Nemaline Myopathy 4 |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 35685672 |
| Gene | TPM2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104894129 |
| dbSNP (classic) | rs104894129 |
| ClinGen | rs104894129 |
| ebi | rs104894129 |
| HLI | rs104894129 |
| Exac | rs104894129 |
| Gnomad | rs104894129 |
| Varsome | rs104894129 |
| LitVar | rs104894129 |
| Map | rs104894129 |
| PheGenI | rs104894129 |
| Biobank | rs104894129 |
| 1000 genomes | rs104894129 |
| hgdp | rs104894129 |
| ensembl | rs104894129 |
| geneview | rs104894129 |
| scholar | rs104894129 |
| rs104894129 | |
| pharmgkb | rs104894129 |
| gwascentral | rs104894129 |
| openSNP | rs104894129 |
| 23andMe | rs104894129 |
| SNPshot | rs104894129 |
| SNPdbe | rs104894129 |
| MSV3d | rs104894129 |
| GWAS Ctlg | rs104894129 |
| Max Magnitude | 4 |
| ClinVar | |
|---|---|
| Risk | Rs104894129(A;A) |
| Alt | Rs104894129(A;A) |
| Reference | Rs104894129(G;G) |
| Significance | Pathogenic |
| Disease | Nemaline myopathy 4 not provided |
| Variation | info |
| Gene | TPM2 |
| CLNDBN | Nemaline myopathy 4 not provided |
| Reversed | 1 |
| HGVS | NC_000009.11:g.35685669C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000013278.19, RCV000128681.3, |
[PMID 11738357] Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy. [PMID 18789687] TPM2 mutation.
