rs77892378
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs77892378(C;C) |
| Make rs77892378(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 73406760 |
| Gene | ALB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs77892378 |
| dbSNP (classic) | rs77892378 |
| ClinGen | rs77892378 |
| ebi | rs77892378 |
| HLI | rs77892378 |
| Exac | rs77892378 |
| Gnomad | rs77892378 |
| Varsome | rs77892378 |
| LitVar | rs77892378 |
| Map | rs77892378 |
| PheGenI | rs77892378 |
| Biobank | rs77892378 |
| 1000 genomes | rs77892378 |
| hgdp | rs77892378 |
| ensembl | rs77892378 |
| geneview | rs77892378 |
| scholar | rs77892378 |
| rs77892378 | |
| pharmgkb | rs77892378 |
| gwascentral | rs77892378 |
| openSNP | rs77892378 |
| 23andMe | rs77892378 |
| SNPshot | rs77892378 |
| SNPdbe | rs77892378 |
| MSV3d | rs77892378 |
| GWAS Ctlg | rs77892378 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs77892378(C;C) rs77892378(G;G) |
| Alt | rs77892378(C;C) rs77892378(G;G) |
| Reference | Rs77892378(T;T) |
| Significance | Other |
| Disease | Hyperthyroxinemia |
| Variation | info |
| Gene | ALB |
| CLNDBN | Hyperthyroxinemia, familial dysalbuminemic |
| Reversed | 0 |
| HGVS | NC_000004.11:g.74272477T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019900.29, |
[PMID 9589637] Familial dysalbuminemic hypertriiodothyroninemia: a new, dominantly inherited albumin defect.
