rs2076739
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs2076739(A;A) |
| Make rs2076739(A;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 132971804 |
| Gene | TG |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2076739 |
| dbSNP (classic) | rs2076739 |
| ClinGen | rs2076739 |
| ebi | rs2076739 |
| HLI | rs2076739 |
| Exac | rs2076739 |
| Gnomad | rs2076739 |
| Varsome | rs2076739 |
| LitVar | rs2076739 |
| Map | rs2076739 |
| PheGenI | rs2076739 |
| Biobank | rs2076739 |
| 1000 genomes | rs2076739 |
| hgdp | rs2076739 |
| ensembl | rs2076739 |
| geneview | rs2076739 |
| scholar | rs2076739 |
| rs2076739 | |
| pharmgkb | rs2076739 |
| gwascentral | rs2076739 |
| openSNP | rs2076739 |
| 23andMe | rs2076739 |
| SNPshot | rs2076739 |
| SNPdbe | rs2076739 |
| MSV3d | rs2076739 |
| GWAS Ctlg | rs2076739 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs2076739(A;A) |
| Alt | rs2076739(A;A) |
| Reference | Rs2076739(T;T) |
| Significance | Pathogenic |
| Disease | Iodotyrosyl coupling defect |
| Variation | info |
| Gene | TG |
| CLNDBN | Iodotyrosyl coupling defect |
| Reversed | 0 |
| HGVS | NC_000008.10:g.133984049T>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000013531.18, |
