rs747868017
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs747868017(A;A) |
| Make rs747868017(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 13 |
| Position | 23330744 |
| Gene | SACS |
| is a | snp |
| is | mentioned by |
| dbSNP | rs747868017 |
| dbSNP (classic) | rs747868017 |
| ClinGen | rs747868017 |
| ebi | rs747868017 |
| HLI | rs747868017 |
| Exac | rs747868017 |
| Gnomad | rs747868017 |
| Varsome | rs747868017 |
| LitVar | rs747868017 |
| Map | rs747868017 |
| PheGenI | rs747868017 |
| Biobank | rs747868017 |
| 1000 genomes | rs747868017 |
| hgdp | rs747868017 |
| ensembl | rs747868017 |
| geneview | rs747868017 |
| scholar | rs747868017 |
| rs747868017 | |
| pharmgkb | rs747868017 |
| gwascentral | rs747868017 |
| openSNP | rs747868017 |
| 23andMe | rs747868017 |
| SNPshot | rs747868017 |
| SNPdbe | rs747868017 |
| MSV3d | rs747868017 |
| GWAS Ctlg | rs747868017 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs747868017(A;A) |
| Alt | rs747868017(A;A) |
| Reference | Rs747868017(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Spastic ataxia Charlevoix-Saguenay type |
| Variation | info |
| Gene | SACS |
| CLNDBN | Spastic ataxia Charlevoix-Saguenay type |
| Reversed | 0 |
| HGVS | NC_000013.10:g.23904883G>A |
| CLNSRC | |
| CLNACC | RCV000410263.1, |
