rs77335374
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs77335374(A;G) |
| Make rs77335374(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 73411994 |
| Gene | ALB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs77335374 |
| dbSNP (classic) | rs77335374 |
| ClinGen | rs77335374 |
| ebi | rs77335374 |
| HLI | rs77335374 |
| Exac | rs77335374 |
| Gnomad | rs77335374 |
| Varsome | rs77335374 |
| LitVar | rs77335374 |
| Map | rs77335374 |
| PheGenI | rs77335374 |
| Biobank | rs77335374 |
| 1000 genomes | rs77335374 |
| hgdp | rs77335374 |
| ensembl | rs77335374 |
| geneview | rs77335374 |
| scholar | rs77335374 |
| rs77335374 | |
| pharmgkb | rs77335374 |
| gwascentral | rs77335374 |
| openSNP | rs77335374 |
| 23andMe | rs77335374 |
| SNPshot | rs77335374 |
| SNPdbe | rs77335374 |
| MSV3d | rs77335374 |
| GWAS Ctlg | rs77335374 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs77335374(G;G) rs77335374(T;T) |
| Alt | rs77335374(G;G) rs77335374(T;T) |
| Reference | Rs77335374(A;A) |
| Significance | Pathogenic |
| Disease | Analbuminemia |
| Variation | info |
| Gene | ALB |
| CLNDBN | Analbuminemia |
| Reversed | 0 |
| HGVS | NC_000004.11:g.74277711A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000019869.28, |
[PMID 3353369
] Splicing mutation in human hereditary analbuminemia.
