rs4774518
From SNPedia
					| Orientation | plus | 
| Stabilized | plus | 
| Geno | Mag | Summary | 
|---|---|---|
| (C;C) | 0 | common in clinvar | 
| Make rs4774518(C;G) | 
| Make rs4774518(G;G) | 
| Reference | GRCh38 38.1/141 | 
| Chromosome | 15 | 
| Position | 45117274 | 
| Gene | DUOXA1, DUOXA2 | 
| is a | snp | 
| is | mentioned by | 
| dbSNP | rs4774518 | 
| dbSNP (classic) | rs4774518 | 
| ClinGen | rs4774518 | 
| ebi | rs4774518 | 
| HLI | rs4774518 | 
| Exac | rs4774518 | 
| Gnomad | rs4774518 | 
| Varsome | rs4774518 | 
| LitVar | rs4774518 | 
| Map | rs4774518 | 
| PheGenI | rs4774518 | 
| Biobank | rs4774518 | 
| 1000 genomes | rs4774518 | 
| hgdp | rs4774518 | 
| ensembl | rs4774518 | 
| geneview | rs4774518 | 
| scholar | rs4774518 | 
| rs4774518 | |
| pharmgkb | rs4774518 | 
| gwascentral | rs4774518 | 
| openSNP | rs4774518 | 
| 23andMe | rs4774518 | 
| SNPshot | rs4774518 | 
| SNPdbe | rs4774518 | 
| MSV3d | rs4774518 | 
| GWAS Ctlg | rs4774518 | 
| GMAF | 0.0225 | 
| Max Magnitude | 0 | 
| ? | (C;C) (C;T) | |
|---|---|---|
| 
 
 
  | ||
| ClinVar | |
|---|---|
| Risk | rs4774518(G;G) rs4774518(T;T) | 
| Alt | rs4774518(G;G) rs4774518(T;T) | 
| Reference | Rs4774518(C;C) | 
| Significance | Pathogenic | 
| Disease | Thyroglobulin synthesis defect | 
| Variation | info | 
| Gene | DUOXA1 DUOXA2 | 
| CLNDBN | Thyroglobulin synthesis defect | 
| Reversed | 0 | 
| HGVS | NC_000015.9:g.45409472C>G | 
| CLNSRC | OMIM Allelic Variant | 
| CLNACC | RCV000000473.2, | 
