rs77238412
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs77238412(C;G) |
| Make rs77238412(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 73408735 |
| Gene | ALB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs77238412 |
| dbSNP (classic) | rs77238412 |
| ClinGen | rs77238412 |
| ebi | rs77238412 |
| HLI | rs77238412 |
| Exac | rs77238412 |
| Gnomad | rs77238412 |
| Varsome | rs77238412 |
| LitVar | rs77238412 |
| Map | rs77238412 |
| PheGenI | rs77238412 |
| Biobank | rs77238412 |
| 1000 genomes | rs77238412 |
| hgdp | rs77238412 |
| ensembl | rs77238412 |
| geneview | rs77238412 |
| scholar | rs77238412 |
| rs77238412 | |
| pharmgkb | rs77238412 |
| gwascentral | rs77238412 |
| openSNP | rs77238412 |
| 23andMe | rs77238412 |
| SNPshot | rs77238412 |
| SNPdbe | rs77238412 |
| MSV3d | rs77238412 |
| GWAS Ctlg | rs77238412 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs77238412(G;G) rs77238412(T;T) |
| Alt | rs77238412(G;G) rs77238412(T;T) |
| Reference | Rs77238412(C;C) |
| Significance | Other |
| Disease | ALBUMIN YANOMAMA 2 Analbuminemia |
| Variation | info |
| Gene | ALB |
| CLNDBN | ALBUMIN YANOMAMA 2 Analbuminemia |
| Reversed | 0 |
| HGVS | NC_000004.11:g.74274452C>G; NC_000004.11:g.74274452C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019830.1, RCV000144404.1, |
[PMID 3479777
] Amino acid substitutions in inherited albumin variants from Amerindian and Japanese populations.
[PMID 6496475] Bilirubin binding by variant albumins in Yanomama Indians.
[PMID 7937781] Analbuminemia: three cases resulting from different point mutations in the albumin gene.
[PMID 15996651] Analbuminemia in a Swiss family is caused by a C --> T transition at nucleotide 4446 of the albumin gene.
