rs34997054
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs34997054(C;T) |
| Make rs34997054(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 2 |
| Position | 71511847 |
| Gene | DYSF |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34997054 |
| dbSNP (classic) | rs34997054 |
| ClinGen | rs34997054 |
| ebi | rs34997054 |
| HLI | rs34997054 |
| Exac | rs34997054 |
| Gnomad | rs34997054 |
| Varsome | rs34997054 |
| LitVar | rs34997054 |
| Map | rs34997054 |
| PheGenI | rs34997054 |
| Biobank | rs34997054 |
| 1000 genomes | rs34997054 |
| hgdp | rs34997054 |
| ensembl | rs34997054 |
| geneview | rs34997054 |
| scholar | rs34997054 |
| rs34997054 | |
| pharmgkb | rs34997054 |
| gwascentral | rs34997054 |
| openSNP | rs34997054 |
| 23andMe | rs34997054 |
| SNPshot | rs34997054 |
| SNPdbe | rs34997054 |
| MSV3d | rs34997054 |
| GWAS Ctlg | rs34997054 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34997054(T;T) |
| Alt | rs34997054(T;T) |
| Reference | Rs34997054(C;C) |
| Significance | Other |
| Disease | not specified Inborn genetic diseases |
| Variation | info |
| Gene | DYSF |
| CLNDBN | not specified Inborn genetic diseases |
| Reversed | 1 |
| HGVS | NC_000002.11:g.71738977G>A |
| CLNSRC | |
| CLNACC | RCV000080277.9, RCV000210633.1, |
