rs78784172
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs78784172(C;C) |
| Make rs78784172(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 73417671 |
| Gene | ALB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs78784172 |
| dbSNP (classic) | rs78784172 |
| ClinGen | rs78784172 |
| ebi | rs78784172 |
| HLI | rs78784172 |
| Exac | rs78784172 |
| Gnomad | rs78784172 |
| Varsome | rs78784172 |
| LitVar | rs78784172 |
| Map | rs78784172 |
| PheGenI | rs78784172 |
| Biobank | rs78784172 |
| 1000 genomes | rs78784172 |
| hgdp | rs78784172 |
| ensembl | rs78784172 |
| geneview | rs78784172 |
| scholar | rs78784172 |
| rs78784172 | |
| pharmgkb | rs78784172 |
| gwascentral | rs78784172 |
| openSNP | rs78784172 |
| 23andMe | rs78784172 |
| SNPshot | rs78784172 |
| SNPdbe | rs78784172 |
| MSV3d | rs78784172 |
| GWAS Ctlg | rs78784172 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs78784172(C;C) |
| Alt | rs78784172(C;C) |
| Reference | Rs78784172(T;T) |
| Significance | Untested |
| Disease | Analbuminemia |
| Variation | info |
| Gene | ALB |
| CLNDBN | Analbuminemia |
| Reversed | 0 |
| HGVS | NC_000004.11:g.74283388T>C |
| CLNSRC | ClinVar |
| CLNACC | RCV000144395.1, |
[PMID 17644793] Analbuminemia produced by a novel splicing mutation.
