rs75002628
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs75002628(A;A) |
| Make rs75002628(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 73412007 |
| Gene | ALB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs75002628 |
| dbSNP (classic) | rs75002628 |
| ClinGen | rs75002628 |
| ebi | rs75002628 |
| HLI | rs75002628 |
| Exac | rs75002628 |
| Gnomad | rs75002628 |
| Varsome | rs75002628 |
| LitVar | rs75002628 |
| Map | rs75002628 |
| PheGenI | rs75002628 |
| Biobank | rs75002628 |
| 1000 genomes | rs75002628 |
| hgdp | rs75002628 |
| ensembl | rs75002628 |
| geneview | rs75002628 |
| scholar | rs75002628 |
| rs75002628 | |
| pharmgkb | rs75002628 |
| gwascentral | rs75002628 |
| openSNP | rs75002628 |
| 23andMe | rs75002628 |
| SNPshot | rs75002628 |
| SNPdbe | rs75002628 |
| MSV3d | rs75002628 |
| GWAS Ctlg | rs75002628 |
| GMAF | 0.0009183 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs75002628(A;A) rs75002628(C;C) |
| Alt | rs75002628(A;A) rs75002628(C;C) |
| Reference | Rs75002628(G;G) |
| Significance | Other |
| Disease | Hyperthyroxinemia |
| Variation | info |
| Gene | ALB |
| CLNDBN | Hyperthyroxinemia, familial dysalbuminemic |
| Reversed | 0 |
| HGVS | NC_000004.11:g.74277724G>A; NC_000004.11:g.74277724G>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019886.28, RCV000019899.28, |
[PMID 8048949] An identical missense mutation in the albumin gene results in familial dysalbuminemic hyperthyroxinemia in 8 unrelated families.
[PMID 8064810
] A point mutation in the human serum albumin gene results in familial dysalbuminaemic hyperthyroxinaemia.
[PMID 10728776] Familial dysalbuminemic byperthyroxinemia may result in altered warfarin pharmacokinetics.
[PMID 9329347] A novel missense mutation in codon 218 of the albumin gene in a distinct phenotype of familial dysalbuminemic hyperthyroxinemia in a Japanese kindred.
