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.