rs200604349
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common/normal |
| (C;G) | 4 | carrier for a possible allele involved in recessive neurodevelopmental disorder |
| (G;G) | 4 | recessive neurodevelopmental disorder? see discussion |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 22 |
| Position | 43989164 |
| Gene | SAMM50 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs200604349 |
| dbSNP (classic) | rs200604349 |
| ClinGen | rs200604349 |
| ebi | rs200604349 |
| HLI | rs200604349 |
| Exac | rs200604349 |
| Gnomad | rs200604349 |
| Varsome | rs200604349 |
| LitVar | rs200604349 |
| Map | rs200604349 |
| PheGenI | rs200604349 |
| Biobank | rs200604349 |
| 1000 genomes | rs200604349 |
| hgdp | rs200604349 |
| ensembl | rs200604349 |
| geneview | rs200604349 |
| scholar | rs200604349 |
| rs200604349 | |
| pharmgkb | rs200604349 |
| gwascentral | rs200604349 |
| openSNP | rs200604349 |
| 23andMe | rs200604349 |
| SNPshot | rs200604349 |
| SNPdbe | rs200604349 |
| MSV3d | rs200604349 |
| GWAS Ctlg | rs200604349 |
| Max Magnitude | 4 |
see discussion at SAMM50
