rs748087536
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;C) | 6 | DICER1-related tumor susceptibility (predicted) |
| (C;C) | 0 | common in clinvar |
| Make rs748087536(C;T) |
| Make rs748087536(T;T) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 14 |
| Position | 95103720 |
| Gene | DICER1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs748087536 |
| dbSNP (classic) | rs748087536 |
| ClinGen | rs748087536 |
| ebi | rs748087536 |
| HLI | rs748087536 |
| Exac | rs748087536 |
| Gnomad | rs748087536 |
| Varsome | rs748087536 |
| LitVar | rs748087536 |
| Map | rs748087536 |
| PheGenI | rs748087536 |
| Biobank | rs748087536 |
| 1000 genomes | rs748087536 |
| hgdp | rs748087536 |
| ensembl | rs748087536 |
| geneview | rs748087536 |
| scholar | rs748087536 |
| rs748087536 | |
| pharmgkb | rs748087536 |
| gwascentral | rs748087536 |
| openSNP | rs748087536 |
| 23andMe | rs748087536 |
| SNPshot | rs748087536 |
| SNPdbe | rs748087536 |
| MSV3d | rs748087536 |
| GWAS Ctlg | rs748087536 |
| Max Magnitude | 6 |
| ClinVar | |
|---|---|
| Risk | rs748087536(A;A) rs748087536(T;T) |
| Alt | rs748087536(A;A) rs748087536(T;T) |
| Reference | Rs748087536(C;C) |
| 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.95570057C>A; NC_000014.8:g.95570057C>T |
| CLNSRC | Children's Hospitals and Clinics of Minnesota |
| CLNACC | RCV000240916.1, RCV000464309.1, |
