rs104893934
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;G) | 3 | carrier of a spinal muscular atrophy allele |
| (G;G) | 6 | Spinal muscular atrophy, type 1 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 70942490 |
| Gene | SMN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104893934 |
| dbSNP (classic) | rs104893934 |
| ClinGen | rs104893934 |
| ebi | rs104893934 |
| HLI | rs104893934 |
| Exac | rs104893934 |
| Gnomad | rs104893934 |
| Varsome | rs104893934 |
| LitVar | rs104893934 |
| Map | rs104893934 |
| PheGenI | rs104893934 |
| Biobank | rs104893934 |
| 1000 genomes | rs104893934 |
| hgdp | rs104893934 |
| ensembl | rs104893934 |
| geneview | rs104893934 |
| scholar | rs104893934 |
| rs104893934 | |
| pharmgkb | rs104893934 |
| gwascentral | rs104893934 |
| openSNP | rs104893934 |
| 23andMe | rs104893934 |
| SNPshot | rs104893934 |
| SNPdbe | rs104893934 |
| MSV3d | rs104893934 |
| GWAS Ctlg | rs104893934 |
| Max Magnitude | 6 |
rs104893934, also known as c.406C>G, p.Gln136Glu and Q136E, is a mutation in the SMN1 gene on chromosome 5.
The rare rs104893934(G) allele is a mutation associated with the recessively inherited type 1 spinal muscular atrophy, also known as Werdnig-Hoffmann disease.
| ClinVar | |
|---|---|
| Risk | Rs104893934(G;G) |
| Alt | Rs104893934(G;G) |
| Reference | Rs104893934(C;C) |
| Significance | Pathogenic |
| Disease | Werdnig-Hoffmann disease |
| Variation | info |
| Gene | SMN1 |
| CLNDBN | Werdnig-Hoffmann disease |
| Reversed | 0 |
| HGVS | NC_000005.9:g.70238317C>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000009758.3, |
