rs77514449
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs77514449(A;A) |
| Make rs77514449(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 73416259 |
| Gene | ALB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs77514449 |
| dbSNP (classic) | rs77514449 |
| ClinGen | rs77514449 |
| ebi | rs77514449 |
| HLI | rs77514449 |
| Exac | rs77514449 |
| Gnomad | rs77514449 |
| Varsome | rs77514449 |
| LitVar | rs77514449 |
| Map | rs77514449 |
| PheGenI | rs77514449 |
| Biobank | rs77514449 |
| 1000 genomes | rs77514449 |
| hgdp | rs77514449 |
| ensembl | rs77514449 |
| geneview | rs77514449 |
| scholar | rs77514449 |
| rs77514449 | |
| pharmgkb | rs77514449 |
| gwascentral | rs77514449 |
| openSNP | rs77514449 |
| 23andMe | rs77514449 |
| SNPshot | rs77514449 |
| SNPdbe | rs77514449 |
| MSV3d | rs77514449 |
| GWAS Ctlg | rs77514449 |
| GMAF | 0.0004591 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs77514449(A;A) rs77514449(C;C) |
| Alt | rs77514449(A;A) rs77514449(C;C) |
| Reference | Rs77514449(G;G) |
| Significance | Other |
| Disease | ALBUMIN NAGASAKI 2 Alloalbuminemia |
| Variation | info |
| Gene | ALB |
| CLNDBN | ALBUMIN NAGASAKI 2 Alloalbuminemia |
| Reversed | 0 |
| HGVS | NC_000004.11:g.74281976G>A; NC_000004.11:g.74281976G>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019846.1, RCV000144392.1, |
[PMID 3479777
] Amino acid substitutions in inherited albumin variants from Amerindian and Japanese populations.
[PMID 9492301] Structural characterization of three genetic variants of human serum albumin modified in subdomains IIB and IIIA.
