rs142698837
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 3 | Possible association with thyroid dyshormonogenesis |
| (A;G) | 3 | Possible association with thyroid dyshormonogenesis |
| (G;G) | 0 | common/normal |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 8 |
| Position | 132869781 |
| Gene | TG |
| is a | snp |
| is | mentioned by |
| dbSNP | rs142698837 |
| dbSNP (classic) | rs142698837 |
| ClinGen | rs142698837 |
| ebi | rs142698837 |
| HLI | rs142698837 |
| Exac | rs142698837 |
| Gnomad | rs142698837 |
| Varsome | rs142698837 |
| LitVar | rs142698837 |
| Map | rs142698837 |
| PheGenI | rs142698837 |
| Biobank | rs142698837 |
| 1000 genomes | rs142698837 |
| hgdp | rs142698837 |
| ensembl | rs142698837 |
| geneview | rs142698837 |
| scholar | rs142698837 |
| rs142698837 | |
| pharmgkb | rs142698837 |
| gwascentral | rs142698837 |
| openSNP | rs142698837 |
| 23andMe | rs142698837 |
| SNPshot | rs142698837 |
| SNPdbe | rs142698837 |
| MSV3d | rs142698837 |
| GWAS Ctlg | rs142698837 |
| Max Magnitude | 3 |
c.229G>A, p.Gly77Ser, G77S
ClinVar indicated "uncertain significance" for a form of thyroid dyshormonogenesis, listed in OMIM as a recessively inherited condition; in 10.1126/science.aal4043, this variant appears to have some effect even if inherited in only one copy (see paper for discussion) and so is considered pathogenic.
