rs1800580
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs1800580(C;C) |
| Make rs1800580(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 73419640 |
| Gene | ALB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1800580 |
| dbSNP (classic) | rs1800580 |
| ClinGen | rs1800580 |
| ebi | rs1800580 |
| HLI | rs1800580 |
| Exac | rs1800580 |
| Gnomad | rs1800580 |
| Varsome | rs1800580 |
| LitVar | rs1800580 |
| Map | rs1800580 |
| PheGenI | rs1800580 |
| Biobank | rs1800580 |
| 1000 genomes | rs1800580 |
| hgdp | rs1800580 |
| ensembl | rs1800580 |
| geneview | rs1800580 |
| scholar | rs1800580 |
| rs1800580 | |
| pharmgkb | rs1800580 |
| gwascentral | rs1800580 |
| openSNP | rs1800580 |
| 23andMe | rs1800580 |
| SNPshot | rs1800580 |
| SNPdbe | rs1800580 |
| MSV3d | rs1800580 |
| GWAS Ctlg | rs1800580 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs1800580(C;C) |
| Alt | rs1800580(C;C) |
| Reference | Rs1800580(G;G) |
| Significance | Other |
| Disease | ALBUMIN RUGBY PARK |
| Variation | info |
| Gene | ALB |
| CLNDBN | ALBUMIN RUGBY PARK |
| Reversed | 0 |
| HGVS | NC_000004.11:g.74285357G>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000019883.1, |
[PMID 1390939] Albumin Rugby Park: a truncated albumin variant caused by a G-->C splice-site mutation in intron 13.
[PMID 9392528] Effect of genetic variation on the fatty acid-binding properties of human serum albumin and proalbumin.
