rs77449454
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (A;A) | 0 | common in clinvar |
| Make rs77449454(-;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 73413448 |
| Gene | ALB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs77449454 |
| dbSNP (classic) | rs77449454 |
| ClinGen | rs77449454 |
| ebi | rs77449454 |
| HLI | rs77449454 |
| Exac | rs77449454 |
| Gnomad | rs77449454 |
| Varsome | rs77449454 |
| LitVar | rs77449454 |
| Map | rs77449454 |
| PheGenI | rs77449454 |
| Biobank | rs77449454 |
| 1000 genomes | rs77449454 |
| hgdp | rs77449454 |
| ensembl | rs77449454 |
| geneview | rs77449454 |
| scholar | rs77449454 |
| rs77449454 | |
| pharmgkb | rs77449454 |
| gwascentral | rs77449454 |
| openSNP | rs77449454 |
| 23andMe | rs77449454 |
| SNPshot | rs77449454 |
| SNPdbe | rs77449454 |
| MSV3d | rs77449454 |
| GWAS Ctlg | rs77449454 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | Rs77449454(A;A) |
| Alt | Rs77449454(A;A) |
| Reference | Rs77449454(-;-) |
| Significance | Pathogenic |
| Disease | Analbuminemia |
| Variation | info |
| Gene | ALB |
| CLNDBN | Analbuminemia |
| Reversed | 0 |
| HGVS | NC_000004.11:g.74279165dupA |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000019885.28, |
[PMID 8134387
] A nucleotide insertion and frameshift cause analbuminemia in an Italian family.
