rs483353129
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs483353129(A;A) |
| Make rs483353129(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 12 |
| Position | 114399537 |
| Gene | TBX5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs483353129 |
| dbSNP (classic) | rs483353129 |
| ClinGen | rs483353129 |
| ebi | rs483353129 |
| HLI | rs483353129 |
| Exac | rs483353129 |
| Gnomad | rs483353129 |
| Varsome | rs483353129 |
| LitVar | rs483353129 |
| Map | rs483353129 |
| PheGenI | rs483353129 |
| Biobank | rs483353129 |
| 1000 genomes | rs483353129 |
| hgdp | rs483353129 |
| ensembl | rs483353129 |
| geneview | rs483353129 |
| scholar | rs483353129 |
| rs483353129 | |
| pharmgkb | rs483353129 |
| gwascentral | rs483353129 |
| openSNP | rs483353129 |
| 23andMe | rs483353129 |
| SNPshot | rs483353129 |
| SNPdbe | rs483353129 |
| MSV3d | rs483353129 |
| GWAS Ctlg | rs483353129 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs483353129(A;A) rs483353129(T;T) |
| Alt | rs483353129(A;A) rs483353129(T;T) |
| Reference | Rs483353129(G;G) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | TBX5 |
| CLNDBN | not provided |
| Reversed | 1 |
| HGVS | NC_000012.11:g.114837342C>T |
| CLNSRC | ClinVar |
| CLNACC | RCV000128532.1, |
