rs217115
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs217115(C;C) |
| Make rs217115(C;T) |
| Make rs217115(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 11 |
| Position | 88300353 |
| Gene | CTSC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs217115 |
| dbSNP (classic) | rs217115 |
| ClinGen | rs217115 |
| ebi | rs217115 |
| HLI | rs217115 |
| Exac | rs217115 |
| Gnomad | rs217115 |
| Varsome | rs217115 |
| LitVar | rs217115 |
| Map | rs217115 |
| PheGenI | rs217115 |
| Biobank | rs217115 |
| 1000 genomes | rs217115 |
| hgdp | rs217115 |
| ensembl | rs217115 |
| geneview | rs217115 |
| scholar | rs217115 |
| rs217115 | |
| pharmgkb | rs217115 |
| gwascentral | rs217115 |
| openSNP | rs217115 |
| 23andMe | rs217115 |
| SNPshot | rs217115 |
| SNPdbe | rs217115 |
| MSV3d | rs217115 |
| GWAS Ctlg | rs217115 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 26205983] One mutation, two phenotypes: a single nonsense mutation of the CTSC gene causes two clinically distinct phenotypes
