rs28939675
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs28939675(A;A) |
| Make rs28939675(A;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 22 |
| Position | 19763273 |
| Gene | TBX1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28939675 |
| dbSNP (classic) | rs28939675 |
| ClinGen | rs28939675 |
| ebi | rs28939675 |
| HLI | rs28939675 |
| Exac | rs28939675 |
| Gnomad | rs28939675 |
| Varsome | rs28939675 |
| LitVar | rs28939675 |
| Map | rs28939675 |
| PheGenI | rs28939675 |
| Biobank | rs28939675 |
| 1000 genomes | rs28939675 |
| hgdp | rs28939675 |
| ensembl | rs28939675 |
| geneview | rs28939675 |
| scholar | rs28939675 |
| rs28939675 | |
| pharmgkb | rs28939675 |
| gwascentral | rs28939675 |
| openSNP | rs28939675 |
| 23andMe | rs28939675 |
| SNPshot | rs28939675 |
| SNPdbe | rs28939675 |
| MSV3d | rs28939675 |
| GWAS Ctlg | rs28939675 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs28939675(A;A) |
| Alt | rs28939675(A;A) |
| Reference | Rs28939675(T;T) |
| Significance | Pathogenic |
| Disease | Conotruncal anomaly face syndrome/velocardiofacial syndrome |
| Variation | info |
| Gene | TBX1 |
| CLNDBN | Conotruncal anomaly face syndrome/velocardiofacial syndrome |
| Reversed | 0 |
| HGVS | NC_000022.10:g.19750796T>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000007999.3, |
[PMID 16854283] [Single nucleotide polymorphism and haplotype in TBX1 gene of patients with conotruncal defects: analysis of 130 cases].
