rs76163360
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;C) | 3 | carrier of a spinal muscular atrophy disease allele |
| (C;C) | 0 | common in clinvar |
| Make rs76163360(A;A) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 5 |
| Position | 70951942 |
| Gene | SMN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs76163360 |
| dbSNP (classic) | rs76163360 |
| ClinGen | rs76163360 |
| ebi | rs76163360 |
| HLI | rs76163360 |
| Exac | rs76163360 |
| Gnomad | rs76163360 |
| Varsome | rs76163360 |
| LitVar | rs76163360 |
| Map | rs76163360 |
| PheGenI | rs76163360 |
| Biobank | rs76163360 |
| 1000 genomes | rs76163360 |
| hgdp | rs76163360 |
| ensembl | rs76163360 |
| geneview | rs76163360 |
| scholar | rs76163360 |
| rs76163360 | |
| pharmgkb | rs76163360 |
| gwascentral | rs76163360 |
| openSNP | rs76163360 |
| 23andMe | rs76163360 |
| SNPshot | rs76163360 |
| SNPdbe | rs76163360 |
| MSV3d | rs76163360 |
| GWAS Ctlg | rs76163360 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs76163360(A;A) |
| Alt | rs76163360(A;A) |
| Reference | Rs76163360(C;C) |
| Significance | Pathogenic |
| Disease | Werdnig-Hoffmann disease |
| Variation | info |
| Gene | SMN1 |
| CLNDBN | Werdnig-Hoffmann disease |
| Reversed | 1 |
| HGVS | NC_000005.9:g.70247769G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000009738.5, |
