rs797045825
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs797045825(A;G) |
| Make rs797045825(G;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 5 |
| Position | 177282562 |
| Gene | NSD1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs797045825 |
| dbSNP (classic) | rs797045825 |
| ClinGen | rs797045825 |
| ebi | rs797045825 |
| HLI | rs797045825 |
| Exac | rs797045825 |
| Gnomad | rs797045825 |
| Varsome | rs797045825 |
| LitVar | rs797045825 |
| Map | rs797045825 |
| PheGenI | rs797045825 |
| Biobank | rs797045825 |
| 1000 genomes | rs797045825 |
| hgdp | rs797045825 |
| ensembl | rs797045825 |
| geneview | rs797045825 |
| scholar | rs797045825 |
| rs797045825 | |
| pharmgkb | rs797045825 |
| gwascentral | rs797045825 |
| openSNP | rs797045825 |
| 23andMe | rs797045825 |
| SNPshot | rs797045825 |
| SNPdbe | rs797045825 |
| MSV3d | rs797045825 |
| GWAS Ctlg | rs797045825 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs797045825(G;G) |
| Alt | rs797045825(G;G) |
| Reference | Rs797045825(A;A) |
| Significance | Pathogenic |
| Disease | Sotos syndrome 1 |
| Variation | info |
| Gene | NSD1 |
| CLNDBN | Sotos syndrome 1 |
| Reversed | 0 |
| HGVS | NC_000005.9:g.176709563A>G |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000193844.1, |
