rs56126236
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (AG;AG) | 0 | common in clinvar |
| Make rs56126236(-;-) |
| Make rs56126236(-;AG) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 44829444 |
| Gene | PTCH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs56126236 |
| dbSNP (classic) | rs56126236 |
| ClinGen | rs56126236 |
| ebi | rs56126236 |
| HLI | rs56126236 |
| Exac | rs56126236 |
| Gnomad | rs56126236 |
| Varsome | rs56126236 |
| LitVar | rs56126236 |
| Map | rs56126236 |
| PheGenI | rs56126236 |
| Biobank | rs56126236 |
| 1000 genomes | rs56126236 |
| hgdp | rs56126236 |
| ensembl | rs56126236 |
| geneview | rs56126236 |
| scholar | rs56126236 |
| rs56126236 | |
| pharmgkb | rs56126236 |
| gwascentral | rs56126236 |
| openSNP | rs56126236 |
| 23andMe | rs56126236 |
| SNPshot | rs56126236 |
| SNPdbe | rs56126236 |
| MSV3d | rs56126236 |
| GWAS Ctlg | rs56126236 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs56126236(-;-) |
| Alt | rs56126236(-;-) |
| Reference | Rs56126236(AG;AG) |
| Significance | Pathogenic |
| Disease | Medulloblastoma Gorlin syndrome |
| Variation | info |
| Gene | PTCH2 |
| CLNDBN | Medulloblastoma Gorlin syndrome |
| Reversed | 0 |
| HGVS | NC_000001.10:g.45295116_45295117delAG |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000006520.5, RCV000490457.1, |
