rs78340021
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs78340021(G;T) |
| Make rs78340021(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 73412084 |
| Gene | ALB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs78340021 |
| dbSNP (classic) | rs78340021 |
| ClinGen | rs78340021 |
| ebi | rs78340021 |
| HLI | rs78340021 |
| Exac | rs78340021 |
| Gnomad | rs78340021 |
| Varsome | rs78340021 |
| LitVar | rs78340021 |
| Map | rs78340021 |
| PheGenI | rs78340021 |
| Biobank | rs78340021 |
| 1000 genomes | rs78340021 |
| hgdp | rs78340021 |
| ensembl | rs78340021 |
| geneview | rs78340021 |
| scholar | rs78340021 |
| rs78340021 | |
| pharmgkb | rs78340021 |
| gwascentral | rs78340021 |
| openSNP | rs78340021 |
| 23andMe | rs78340021 |
| SNPshot | rs78340021 |
| SNPdbe | rs78340021 |
| MSV3d | rs78340021 |
| GWAS Ctlg | rs78340021 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs78340021(T;T) |
| Alt | rs78340021(T;T) |
| Reference | Rs78340021(G;G) |
| Significance | Untested |
| Disease | Analbuminemia |
| Variation | info |
| Gene | ALB |
| CLNDBN | Analbuminemia |
| Reversed | 0 |
| HGVS | NC_000004.11:g.74277801G>T |
| CLNSRC | ClinVar |
| CLNACC | RCV000144408.1, |
[PMID 15613718] Novel nonsense mutation causes analbuminemia in a Moroccan family.
