rs75353611
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| Make rs75353611(A;T) |
| Make rs75353611(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 73404401 |
| Gene | ALB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs75353611 |
| dbSNP (classic) | rs75353611 |
| ClinGen | rs75353611 |
| ebi | rs75353611 |
| HLI | rs75353611 |
| Exac | rs75353611 |
| Gnomad | rs75353611 |
| Varsome | rs75353611 |
| LitVar | rs75353611 |
| Map | rs75353611 |
| PheGenI | rs75353611 |
| Biobank | rs75353611 |
| 1000 genomes | rs75353611 |
| hgdp | rs75353611 |
| ensembl | rs75353611 |
| geneview | rs75353611 |
| scholar | rs75353611 |
| rs75353611 | |
| pharmgkb | rs75353611 |
| gwascentral | rs75353611 |
| openSNP | rs75353611 |
| 23andMe | rs75353611 |
| SNPshot | rs75353611 |
| SNPdbe | rs75353611 |
| MSV3d | rs75353611 |
| GWAS Ctlg | rs75353611 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs75353611(T;T) |
| Alt | rs75353611(T;T) |
| Reference | Rs75353611(A;A) |
| Significance | Pathogenic |
| Disease | Alloalbuminemia ALBUMIN BLENHEIM |
| Variation | info |
| Gene | ALB |
| CLNDBN | Alloalbuminemia ALBUMIN BLENHEIM |
| Reversed | 0 |
| HGVS | NC_000004.11:g.74270118A>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019827.3, RCV000144688.2, |
[PMID 2679890] Novel human proalbumin variant with intact dibasic sequence facilitates identification of its converting enzyme.
[PMID 8037675
] Modified high-affinity binding of Ni2+, Ca2+ and Zn2+ to natural mutants of human serum albumin and proalbumin.
