rs886042725
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| Chromosome | 5 |
| Position | 177292135 |
| Gene | NSD1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs886042725 |
| dbSNP (classic) | rs886042725 |
| ClinGen | rs886042725 |
| ebi | rs886042725 |
| HLI | rs886042725 |
| Exac | rs886042725 |
| Gnomad | rs886042725 |
| Varsome | rs886042725 |
| LitVar | rs886042725 |
| Map | rs886042725 |
| PheGenI | rs886042725 |
| Biobank | rs886042725 |
| 1000 genomes | rs886042725 |
| hgdp | rs886042725 |
| ensembl | rs886042725 |
| geneview | rs886042725 |
| scholar | rs886042725 |
| rs886042725 | |
| pharmgkb | rs886042725 |
| gwascentral | rs886042725 |
| openSNP | rs886042725 |
| 23andMe | rs886042725 |
| SNPshot | rs886042725 |
| SNPdbe | rs886042725 |
| MSV3d | rs886042725 |
| GWAS Ctlg | rs886042725 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs886042725(T;T) |
| Alt | rs886042725(T;T) |
| Reference | Rs886042725(-;-) |
| Significance | Pathogenic |
| Disease | Sotos syndrome 1 |
| Variation | info |
| Gene | NSD1 |
| CLNDBN | Sotos syndrome 1 |
| Reversed | 0 |
| HGVS | NC_000005.9:g.176719136dupT |
| CLNSRC | |
| CLNACC | RCV000291827.1, |
