rs199474831
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs199474831(G;G) |
| Make rs199474831(G;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 88335052 |
| Gene | CTSC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199474831 |
| dbSNP (classic) | rs199474831 |
| ClinGen | rs199474831 |
| ebi | rs199474831 |
| HLI | rs199474831 |
| Exac | rs199474831 |
| Gnomad | rs199474831 |
| Varsome | rs199474831 |
| LitVar | rs199474831 |
| Map | rs199474831 |
| PheGenI | rs199474831 |
| Biobank | rs199474831 |
| 1000 genomes | rs199474831 |
| hgdp | rs199474831 |
| ensembl | rs199474831 |
| geneview | rs199474831 |
| scholar | rs199474831 |
| rs199474831 | |
| pharmgkb | rs199474831 |
| gwascentral | rs199474831 |
| openSNP | rs199474831 |
| 23andMe | rs199474831 |
| SNPshot | rs199474831 |
| SNPdbe | rs199474831 |
| MSV3d | rs199474831 |
| GWAS Ctlg | rs199474831 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs199474831(G;G) |
| Alt | rs199474831(G;G) |
| Reference | Rs199474831(T;T) |
| Significance | Probable-Pathogenic |
| Disease | Papillon-Lefà ¨ vre syndrome |
| Variation | info |
| Gene | CTSC |
| CLNDBN | Papillon-Lefà ¨ vre syndrome |
| Reversed | 1 |
| HGVS | NC_000011.9:g.88068220A>C |
| CLNSRC | |
| CLNACC | |
