rs201857437
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs201857437(A;G) |
| Make rs201857437(G;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 5 |
| Position | 177257077 |
| Gene | NSD1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs201857437 |
| dbSNP (classic) | rs201857437 |
| ClinGen | rs201857437 |
| ebi | rs201857437 |
| HLI | rs201857437 |
| Exac | rs201857437 |
| Gnomad | rs201857437 |
| Varsome | rs201857437 |
| LitVar | rs201857437 |
| Map | rs201857437 |
| PheGenI | rs201857437 |
| Biobank | rs201857437 |
| 1000 genomes | rs201857437 |
| hgdp | rs201857437 |
| ensembl | rs201857437 |
| geneview | rs201857437 |
| scholar | rs201857437 |
| rs201857437 | |
| pharmgkb | rs201857437 |
| gwascentral | rs201857437 |
| openSNP | rs201857437 |
| 23andMe | rs201857437 |
| SNPshot | rs201857437 |
| SNPdbe | rs201857437 |
| MSV3d | rs201857437 |
| GWAS Ctlg | rs201857437 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs201857437(G;G) |
| Alt | rs201857437(G;G) |
| Reference | Rs201857437(A;A) |
| Significance | Probable-Pathogenic |
| Disease | not specified Sotos syndrome 1 |
| Variation | info |
| Gene | NSD1 |
| CLNDBN | not specified Sotos syndrome 1 |
| Reversed | 0 |
| HGVS | NC_000005.9:g.176684078A>G |
| CLNSRC | ClinVar Emory University University of Chicago |
| CLNACC | RCV000082126.4, RCV000146854.1, |
