rs61747482
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs61747482(C;C) |
| Make rs61747482(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 14 |
| Position | 80955786 |
| Gene | CEP128, TSHR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs61747482 |
| dbSNP (classic) | rs61747482 |
| ClinGen | rs61747482 |
| ebi | rs61747482 |
| HLI | rs61747482 |
| Exac | rs61747482 |
| Gnomad | rs61747482 |
| Varsome | rs61747482 |
| LitVar | rs61747482 |
| Map | rs61747482 |
| PheGenI | rs61747482 |
| Biobank | rs61747482 |
| 1000 genomes | rs61747482 |
| hgdp | rs61747482 |
| ensembl | rs61747482 |
| geneview | rs61747482 |
| scholar | rs61747482 |
| rs61747482 | |
| pharmgkb | rs61747482 |
| gwascentral | rs61747482 |
| openSNP | rs61747482 |
| 23andMe | rs61747482 |
| SNPshot | rs61747482 |
| SNPdbe | rs61747482 |
| MSV3d | rs61747482 |
| GWAS Ctlg | rs61747482 |
| GMAF | 0.002296 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs61747482(C;C) |
| Alt | rs61747482(C;C) |
| Reference | Rs61747482(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | THYROTROPIN RECEPTOR POLYMORPHISM not specified Hyperthyroidism Congenital hypothyroidism |
| Variation | info |
| Gene | TSHR |
| CLNDBN | THYROTROPIN RECEPTOR POLYMORPHISM not specified Hyperthyroidism, nonautoimmune Congenital hypothyroidism |
| Reversed | 0 |
| HGVS | NC_000014.8:g.81422130G>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000006799.3, RCV000122245.2, RCV000259846.1, RCV000373195.1, |
