rs397514518
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) | 3 | carrier of a spinal muscular atrophy disease allele |
| (T;T) | 0 | common in clinvar |
| Make rs397514518(C;C) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 5 |
| Position | 70942472 |
| Gene | SMN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397514518 |
| dbSNP (classic) | rs397514518 |
| ClinGen | rs397514518 |
| ebi | rs397514518 |
| HLI | rs397514518 |
| Exac | rs397514518 |
| Gnomad | rs397514518 |
| Varsome | rs397514518 |
| LitVar | rs397514518 |
| Map | rs397514518 |
| PheGenI | rs397514518 |
| Biobank | rs397514518 |
| 1000 genomes | rs397514518 |
| hgdp | rs397514518 |
| ensembl | rs397514518 |
| geneview | rs397514518 |
| scholar | rs397514518 |
| rs397514518 | |
| pharmgkb | rs397514518 |
| gwascentral | rs397514518 |
| openSNP | rs397514518 |
| 23andMe | rs397514518 |
| SNPshot | rs397514518 |
| SNPdbe | rs397514518 |
| MSV3d | rs397514518 |
| GWAS Ctlg | rs397514518 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs397514518(C;C) |
| Alt | rs397514518(C;C) |
| Reference | Rs397514518(T;T) |
| Significance | Pathogenic |
| Disease | Kugelberg-Welander disease |
| Variation | info |
| Gene | SMN1 |
| CLNDBN | Kugelberg-Welander disease |
| Reversed | 0 |
| HGVS | NC_000005.9:g.70238299T>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000032709.3, |
