rs121908866
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | Carrier of a congenital hypothyroidism mutation; 3.3x higher risk for hypothyroidism |
| (G;G) | 0 | common in clinvar |
| Make rs121908866(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 14 |
| Position | 81143695 |
| Gene | LOC101928462, TSHR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121908866 |
| dbSNP (classic) | rs121908866 |
| ClinGen | rs121908866 |
| ebi | rs121908866 |
| HLI | rs121908866 |
| Exac | rs121908866 |
| Gnomad | rs121908866 |
| Varsome | rs121908866 |
| LitVar | rs121908866 |
| Map | rs121908866 |
| PheGenI | rs121908866 |
| Biobank | rs121908866 |
| 1000 genomes | rs121908866 |
| hgdp | rs121908866 |
| ensembl | rs121908866 |
| geneview | rs121908866 |
| scholar | rs121908866 |
| rs121908866 | |
| pharmgkb | rs121908866 |
| gwascentral | rs121908866 |
| openSNP | rs121908866 |
| 23andMe | rs121908866 |
| SNPshot | rs121908866 |
| SNPdbe | rs121908866 |
| MSV3d | rs121908866 |
| GWAS Ctlg | rs121908866 |
| Max Magnitude | 3 |
aka c.1637G>A (p.Trp546Ter or W546X)
Inherited recessively, in Caucasians the W546X variant may be among one of the most common congenital hypothyroidism mutations; this variant is also reported as associated with a 3.3x higher risk of hypothyroidism.[PMID 30665703
]
See also OMIM 603372.0010
| ClinVar | |
|---|---|
| Risk | rs121908866(A;A) |
| Alt | rs121908866(A;A) |
| Reference | Rs121908866(G;G) |
| Significance | Pathogenic |
| Disease | Hypothyroidism Hyperthyroidism not provided Congenital hypothyroidism |
| Variation | info |
| Gene | LOC101928431 TSHR |
| CLNDBN | Hypothyroidism, congenital, nongoitrous, 1 Hyperthyroidism, nonautoimmune not provided Congenital hypothyroidism |
| Reversed | 0 |
| HGVS | NC_000014.8:g.81610039G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000006809.4, RCV000292905.1, RCV000333686.1, RCV000350279.1, |
