rs2296212
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs2296212(C;G) |
| Make rs2296212(G;G) |
| Reference | GRCh37 37.1/132 |
| Chromosome | 9 |
| Position | 2191309 |
| Gene | LOC107987043, SMARCA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2296212 |
| dbSNP (classic) | rs2296212 |
| ClinGen | rs2296212 |
| ebi | rs2296212 |
| HLI | rs2296212 |
| Exac | rs2296212 |
| Gnomad | rs2296212 |
| Varsome | rs2296212 |
| LitVar | rs2296212 |
| Map | rs2296212 |
| PheGenI | rs2296212 |
| Biobank | rs2296212 |
| 1000 genomes | rs2296212 |
| hgdp | rs2296212 |
| ensembl | rs2296212 |
| geneview | rs2296212 |
| scholar | rs2296212 |
| rs2296212 | |
| pharmgkb | rs2296212 |
| gwascentral | rs2296212 |
| openSNP | rs2296212 |
| 23andMe | rs2296212 |
| SNPshot | rs2296212 |
| SNPdbe | rs2296212 |
| MSV3d | rs2296212 |
| GWAS Ctlg | rs2296212 |
| GMAF | 0.1809 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
| OMIM | 600014 |
| Desc | SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, |
| Variant | |
| Related | also |
[PMID 19363039] Involvement of SMARCA2/BRM in the SWI/SNF chromatin-remodeling complex in schizophrenia.
[PMID 23276717
] SWI/SNF gene variants and glioma risk and outcome.
| ClinVar | |
|---|---|
| Risk | rs2296212(G;G) |
| Alt | rs2296212(G;G) |
| Reference | Rs2296212(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | not specified Nicolaides-Baraitser syndrome |
| Variation | info |
| Gene | SMARCA2 |
| CLNDBN | not specified Nicolaides-Baraitser syndrome |
| Reversed | 0 |
| HGVS | NC_000009.11:g.2191309C>G |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000114292.2, RCV000298011.1, |
