rs72552710
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs72552710(G;T) |
| Make rs72552710(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 73413587 |
| Gene | ALB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs72552710 |
| dbSNP (classic) | rs72552710 |
| ClinGen | rs72552710 |
| ebi | rs72552710 |
| HLI | rs72552710 |
| Exac | rs72552710 |
| Gnomad | rs72552710 |
| Varsome | rs72552710 |
| LitVar | rs72552710 |
| Map | rs72552710 |
| PheGenI | rs72552710 |
| Biobank | rs72552710 |
| 1000 genomes | rs72552710 |
| hgdp | rs72552710 |
| ensembl | rs72552710 |
| geneview | rs72552710 |
| scholar | rs72552710 |
| rs72552710 | |
| pharmgkb | rs72552710 |
| gwascentral | rs72552710 |
| openSNP | rs72552710 |
| 23andMe | rs72552710 |
| SNPshot | rs72552710 |
| SNPdbe | rs72552710 |
| MSV3d | rs72552710 |
| GWAS Ctlg | rs72552710 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs72552710(C;C) rs72552710(T;T) |
| Alt | rs72552710(C;C) rs72552710(T;T) |
| Reference | Rs72552710(G;G) |
| Significance | Other |
| Disease | ALBUMIN TAGLIACOZZO |
| Variation | info |
| Gene | ALB |
| CLNDBN | ALBUMIN TAGLIACOZZO |
| Reversed | 0 |
| HGVS | NC_000004.11:g.74279304G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019835.1, |
[PMID 2304452] Binding of warfarin, salicylate, and diazepam to genetic variants of human serum albumin with known mutations.
[PMID 3780972] The molecular defect of albumin Tagliacozzo: 313 Lys----Asn.
[PMID 9544457] Genetic variation in human serum albumin: a 313 Lys-->Asn mutation in albumin reading identified by PCR analysis.
[PMID 15680241] Effect of genetic variation on the thermal stability of human serum albumin.
