rs80338917
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0.1 | Normal, no Char Syndrome mutation here. |
| (C;T) | 6 | Char Syndrome. |
| (T;T) | 6 | Char Syndrome. |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 50838051 |
| Gene | TFAP2B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338917 |
| dbSNP (classic) | rs80338917 |
| ClinGen | rs80338917 |
| ebi | rs80338917 |
| HLI | rs80338917 |
| Exac | rs80338917 |
| Gnomad | rs80338917 |
| Varsome | rs80338917 |
| LitVar | rs80338917 |
| Map | rs80338917 |
| PheGenI | rs80338917 |
| Biobank | rs80338917 |
| 1000 genomes | rs80338917 |
| hgdp | rs80338917 |
| ensembl | rs80338917 |
| geneview | rs80338917 |
| scholar | rs80338917 |
| rs80338917 | |
| pharmgkb | rs80338917 |
| gwascentral | rs80338917 |
| openSNP | rs80338917 |
| 23andMe | rs80338917 |
| SNPshot | rs80338917 |
| SNPdbe | rs80338917 |
| MSV3d | rs80338917 |
| GWAS Ctlg | rs80338917 |
| Max Magnitude | 6 |
| ClinVar | |
|---|---|
| Risk | Rs80338917(T;T) |
| Alt | Rs80338917(T;T) |
| Reference | Rs80338917(C;C) |
| Significance | Pathogenic |
| Disease | Char syndrome |
| Variation | info |
| Gene | TFAP2B |
| CLNDBN | Char syndrome |
| Reversed | 0 |
| HGVS | NC_000006.11:g.50805764C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000008506.3, |
[PMID 10802654] Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus.
