rs201129153
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs201129153(C;T) |
| Make rs201129153(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 1 |
| Position | 218441257 |
| Gene | TGFB2, TGFB2-OT1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs201129153 |
| dbSNP (classic) | rs201129153 |
| ClinGen | rs201129153 |
| ebi | rs201129153 |
| HLI | rs201129153 |
| Exac | rs201129153 |
| Gnomad | rs201129153 |
| Varsome | rs201129153 |
| LitVar | rs201129153 |
| Map | rs201129153 |
| PheGenI | rs201129153 |
| Biobank | rs201129153 |
| 1000 genomes | rs201129153 |
| hgdp | rs201129153 |
| ensembl | rs201129153 |
| geneview | rs201129153 |
| scholar | rs201129153 |
| rs201129153 | |
| pharmgkb | rs201129153 |
| gwascentral | rs201129153 |
| openSNP | rs201129153 |
| 23andMe | rs201129153 |
| SNPshot | rs201129153 |
| SNPdbe | rs201129153 |
| MSV3d | rs201129153 |
| GWAS Ctlg | rs201129153 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs201129153(G;G) rs201129153(T;T) |
| Alt | rs201129153(G;G) rs201129153(T;T) |
| Reference | Rs201129153(C;C) |
| Significance | Probable-Pathogenic |
| Disease | not provided Holt-Oram syndrome |
| Variation | info |
| Gene | TGFB2-OT1 TGFB2 |
| CLNDBN | not provided Holt-Oram syndrome |
| Reversed | 0 |
| HGVS | NC_000001.10:g.218614599C>G; NC_000001.10:g.218614599C>T |
| CLNSRC | |
| CLNACC | RCV000441929.1, RCV000459106.1, |
