rs2229843
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs2229843(G;T) |
| Make rs2229843(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 132888417 |
| Gene | TG |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2229843 |
| dbSNP (classic) | rs2229843 |
| ClinGen | rs2229843 |
| ebi | rs2229843 |
| HLI | rs2229843 |
| Exac | rs2229843 |
| Gnomad | rs2229843 |
| Varsome | rs2229843 |
| LitVar | rs2229843 |
| Map | rs2229843 |
| PheGenI | rs2229843 |
| Biobank | rs2229843 |
| 1000 genomes | rs2229843 |
| hgdp | rs2229843 |
| ensembl | rs2229843 |
| geneview | rs2229843 |
| scholar | rs2229843 |
| rs2229843 | |
| pharmgkb | rs2229843 |
| gwascentral | rs2229843 |
| openSNP | rs2229843 |
| 23andMe | rs2229843 |
| SNPshot | rs2229843 |
| SNPdbe | rs2229843 |
| MSV3d | rs2229843 |
| GWAS Ctlg | rs2229843 |
| GMAF | 0.001377 |
| Max Magnitude | 0 |
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs2229843(T;T) |
| Alt | rs2229843(T;T) |
| Reference | Rs2229843(G;G) |
| Significance | Unknown |
| Disease | Iodotyrosyl coupling defect |
| Variation | info |
| Gene | TG |
| CLNDBN | Iodotyrosyl coupling defect |
| Reversed | 0 |
| HGVS | NC_000008.10:g.133900662G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000013527.2, |
