rs79228041
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs79228041(A;A) |
| Make rs79228041(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 73419634 |
| Gene | ALB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs79228041 |
| dbSNP (classic) | rs79228041 |
| ClinGen | rs79228041 |
| ebi | rs79228041 |
| HLI | rs79228041 |
| Exac | rs79228041 |
| Gnomad | rs79228041 |
| Varsome | rs79228041 |
| LitVar | rs79228041 |
| Map | rs79228041 |
| PheGenI | rs79228041 |
| Biobank | rs79228041 |
| 1000 genomes | rs79228041 |
| hgdp | rs79228041 |
| ensembl | rs79228041 |
| geneview | rs79228041 |
| scholar | rs79228041 |
| rs79228041 | |
| pharmgkb | rs79228041 |
| gwascentral | rs79228041 |
| openSNP | rs79228041 |
| 23andMe | rs79228041 |
| SNPshot | rs79228041 |
| SNPdbe | rs79228041 |
| MSV3d | rs79228041 |
| GWAS Ctlg | rs79228041 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs79228041(A;A) |
| Alt | rs79228041(A;A) |
| Reference | Rs79228041(G;G) |
| Significance | Pathogenic |
| Disease | ALBUMIN B |
| Variation | info |
| Gene | ALB |
| CLNDBN | ALBUMIN B |
| Reversed | 0 |
| HGVS | NC_000004.11:g.74285351G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019862.25, |
[PMID 3689800] Structural characterization of two genetic variants of human serum albumin.
[PMID 5059895] Amino acid substitution in two identical inherited human serum albumin variants: albumin Oliphant and albumin Ann Arbor.
[PMID 15680241] Effect of genetic variation on the thermal stability of human serum albumin.
[PMID 21499247
] Exome sequencing identifies GRIN2A as frequently mutated in melanoma.
