rs397514692
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs397514692(C;C) |
| Make rs397514692(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 5583728 |
| Gene | NLRP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397514692 |
| dbSNP (classic) | rs397514692 |
| ClinGen | rs397514692 |
| ebi | rs397514692 |
| HLI | rs397514692 |
| Exac | rs397514692 |
| Gnomad | rs397514692 |
| Varsome | rs397514692 |
| LitVar | rs397514692 |
| Map | rs397514692 |
| PheGenI | rs397514692 |
| Biobank | rs397514692 |
| 1000 genomes | rs397514692 |
| hgdp | rs397514692 |
| ensembl | rs397514692 |
| geneview | rs397514692 |
| scholar | rs397514692 |
| rs397514692 | |
| pharmgkb | rs397514692 |
| gwascentral | rs397514692 |
| openSNP | rs397514692 |
| 23andMe | rs397514692 |
| SNPshot | rs397514692 |
| SNPdbe | rs397514692 |
| MSV3d | rs397514692 |
| GWAS Ctlg | rs397514692 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs397514692(C;C) |
| Alt | rs397514692(C;C) |
| Reference | Rs397514692(T;T) |
| Significance | Pathogenic |
| Disease | Palmoplantar carcinoma |
| Variation | info |
| Gene | NLRP1 |
| CLNDBN | Palmoplantar carcinoma, multiple self-healing |
| Reversed | 1 |
| HGVS | NC_000017.10:g.5487048A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000043505.4, |
