rs41298838
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs41298838(A;A) |
| Make rs41298838(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 22 |
| Position | 19765921 |
| Gene | TBX1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs41298838 |
| dbSNP (classic) | rs41298838 |
| ClinGen | rs41298838 |
| ebi | rs41298838 |
| HLI | rs41298838 |
| Exac | rs41298838 |
| Gnomad | rs41298838 |
| Varsome | rs41298838 |
| LitVar | rs41298838 |
| Map | rs41298838 |
| PheGenI | rs41298838 |
| Biobank | rs41298838 |
| 1000 genomes | rs41298838 |
| hgdp | rs41298838 |
| ensembl | rs41298838 |
| geneview | rs41298838 |
| scholar | rs41298838 |
| rs41298838 | |
| pharmgkb | rs41298838 |
| gwascentral | rs41298838 |
| openSNP | rs41298838 |
| 23andMe | rs41298838 |
| SNPshot | rs41298838 |
| SNPdbe | rs41298838 |
| MSV3d | rs41298838 |
| GWAS Ctlg | rs41298838 |
| GMAF | 0.01056 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs41298838(A;A) |
| Alt | rs41298838(A;A) |
| Reference | Rs41298838(G;G) |
| Significance | Pathogenic |
| Disease | DiGeorge sequence |
| Variation | info |
| Gene | TBX1 |
| CLNDBN | DiGeorge sequence |
| Reversed | 0 |
| HGVS | NC_000022.10:g.19753444G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000008000.3, |
