rs199599591
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs199599591(A;A) |
| Make rs199599591(A;C) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 8 |
| Position | 132941493 |
| Gene | TG |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199599591 |
| dbSNP (classic) | rs199599591 |
| ClinGen | rs199599591 |
| ebi | rs199599591 |
| HLI | rs199599591 |
| Exac | rs199599591 |
| Gnomad | rs199599591 |
| Varsome | rs199599591 |
| LitVar | rs199599591 |
| Map | rs199599591 |
| PheGenI | rs199599591 |
| Biobank | rs199599591 |
| 1000 genomes | rs199599591 |
| hgdp | rs199599591 |
| ensembl | rs199599591 |
| geneview | rs199599591 |
| scholar | rs199599591 |
| rs199599591 | |
| pharmgkb | rs199599591 |
| gwascentral | rs199599591 |
| openSNP | rs199599591 |
| 23andMe | rs199599591 |
| SNPshot | rs199599591 |
| SNPdbe | rs199599591 |
| MSV3d | rs199599591 |
| GWAS Ctlg | rs199599591 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs199599591(A;A) rs199599591(T;T) |
| Alt | rs199599591(A;A) rs199599591(T;T) |
| Reference | Rs199599591(C;C) |
| Significance | Pathogenic |
| Disease | Iodotyrosyl coupling defect |
| Variation | info |
| Gene | TG |
| CLNDBN | Iodotyrosyl coupling defect |
| Reversed | 0 |
| HGVS | NC_000008.10:g.133953738C>A |
| CLNSRC | |
| CLNACC | RCV000190631.1, |
