rs7911129
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| Make rs7911129(A;G) |
| Make rs7911129(G;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 10 |
| Position | 110581113 |
| Gene | SMC3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs7911129 |
| dbSNP (classic) | rs7911129 |
| ClinGen | rs7911129 |
| ebi | rs7911129 |
| HLI | rs7911129 |
| Exac | rs7911129 |
| Gnomad | rs7911129 |
| Varsome | rs7911129 |
| LitVar | rs7911129 |
| Map | rs7911129 |
| PheGenI | rs7911129 |
| Biobank | rs7911129 |
| 1000 genomes | rs7911129 |
| hgdp | rs7911129 |
| ensembl | rs7911129 |
| geneview | rs7911129 |
| scholar | rs7911129 |
| rs7911129 | |
| pharmgkb | rs7911129 |
| gwascentral | rs7911129 |
| openSNP | rs7911129 |
| 23andMe | rs7911129 |
| SNPshot | rs7911129 |
| SNPdbe | rs7911129 |
| MSV3d | rs7911129 |
| GWAS Ctlg | rs7911129 |
| GMAF | 0.1152 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 17273969
] Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.
