rs374740802
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs374740802(C;G) |
| Make rs374740802(G;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 5 |
| Position | 177210749 |
| Gene | NSD1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs374740802 |
| dbSNP (classic) | rs374740802 |
| ClinGen | rs374740802 |
| ebi | rs374740802 |
| HLI | rs374740802 |
| Exac | rs374740802 |
| Gnomad | rs374740802 |
| Varsome | rs374740802 |
| LitVar | rs374740802 |
| Map | rs374740802 |
| PheGenI | rs374740802 |
| Biobank | rs374740802 |
| 1000 genomes | rs374740802 |
| hgdp | rs374740802 |
| ensembl | rs374740802 |
| geneview | rs374740802 |
| scholar | rs374740802 |
| rs374740802 | |
| pharmgkb | rs374740802 |
| gwascentral | rs374740802 |
| openSNP | rs374740802 |
| 23andMe | rs374740802 |
| SNPshot | rs374740802 |
| SNPdbe | rs374740802 |
| MSV3d | rs374740802 |
| GWAS Ctlg | rs374740802 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs374740802(G;G) rs374740802(T;T) |
| Alt | rs374740802(G;G) rs374740802(T;T) |
| Reference | Rs374740802(C;C) |
| Significance | Probable-Pathogenic |
| Disease | not specified Beckwith-Wiedemann syndrome Sotos syndrome 1 |
| Variation | info |
| Gene | NSD1 |
| CLNDBN | not specified Beckwith-Wiedemann syndrome Sotos syndrome 1 |
| Reversed | 0 |
| HGVS | NC_000005.9:g.176637750C>G; NC_000005.9:g.176637750C>T |
| CLNSRC | |
| CLNACC | RCV000082110.4, RCV000195430.1, |
