rs121964851
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 4 | Nemaline Myopathy 1 |
| (-;TAA) | 2 | Nemaline Myopathy 1 |
| (AAT;AAT) | 0 | common in clinvar |
| (TAA;TAA) | 0 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 154167937 |
| Gene | TPM3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121964851 |
| dbSNP (classic) | rs121964851 |
| ClinGen | rs121964851 |
| ebi | rs121964851 |
| HLI | rs121964851 |
| Exac | rs121964851 |
| Gnomad | rs121964851 |
| Varsome | rs121964851 |
| LitVar | rs121964851 |
| Map | rs121964851 |
| PheGenI | rs121964851 |
| Biobank | rs121964851 |
| 1000 genomes | rs121964851 |
| hgdp | rs121964851 |
| ensembl | rs121964851 |
| geneview | rs121964851 |
| scholar | rs121964851 |
| rs121964851 | |
| pharmgkb | rs121964851 |
| gwascentral | rs121964851 |
| openSNP | rs121964851 |
| 23andMe | rs121964851 |
| SNPshot | rs121964851 |
| SNPdbe | rs121964851 |
| MSV3d | rs121964851 |
| GWAS Ctlg | rs121964851 |
| Max Magnitude | 4 |
| ClinVar | |
|---|---|
| Risk | |
| Alt | |
| Reference | Rs121964851(AAT;AAT) |
| Significance | Untested |
| Disease | Nemaline myopathy 1 |
| Variation | info |
| Gene | TPM3 |
| CLNDBN | Nemaline myopathy 1 |
| Reversed | 1 |
| HGVS | NC_000001.10:g.154140413_154140415delTTA |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | SCV000033507.1, SCV000033507.1, |
