rs768248216
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs768248216(A;A) |
| Make rs768248216(A;G) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 14 |
| Position | 95126651 |
| Gene | DICER1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs768248216 |
| dbSNP (classic) | rs768248216 |
| ClinGen | rs768248216 |
| ebi | rs768248216 |
| HLI | rs768248216 |
| Exac | rs768248216 |
| Gnomad | rs768248216 |
| Varsome | rs768248216 |
| LitVar | rs768248216 |
| Map | rs768248216 |
| PheGenI | rs768248216 |
| Biobank | rs768248216 |
| 1000 genomes | rs768248216 |
| hgdp | rs768248216 |
| ensembl | rs768248216 |
| geneview | rs768248216 |
| scholar | rs768248216 |
| rs768248216 | |
| pharmgkb | rs768248216 |
| gwascentral | rs768248216 |
| openSNP | rs768248216 |
| 23andMe | rs768248216 |
| SNPshot | rs768248216 |
| SNPdbe | rs768248216 |
| MSV3d | rs768248216 |
| GWAS Ctlg | rs768248216 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs768248216(A;A) |
| Alt | rs768248216(A;A) |
| Reference | Rs768248216(G;G) |
| Significance | Pathogenic |
| Disease | DICER1-related pleuropulmonary blastoma cancer predisposition syndrome |
| Variation | info |
| Gene | DICER1 |
| CLNDBN | DICER1-related pleuropulmonary blastoma cancer predisposition syndrome |
| Reversed | 0 |
| HGVS | NC_000014.8:g.95592988G>A |
| CLNSRC | Children's Hospitals and Clinics of Minnesota |
| CLNACC | RCV000240941.1, |
