rs75152012
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (AT;AT) | 0 | common in clinvar |
| Make rs75152012(-;-) |
| Make rs75152012(-;AT) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 73406719 |
| Gene | ALB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs75152012 |
| dbSNP (classic) | rs75152012 |
| ClinGen | rs75152012 |
| ebi | rs75152012 |
| HLI | rs75152012 |
| Exac | rs75152012 |
| Gnomad | rs75152012 |
| Varsome | rs75152012 |
| LitVar | rs75152012 |
| Map | rs75152012 |
| PheGenI | rs75152012 |
| Biobank | rs75152012 |
| 1000 genomes | rs75152012 |
| hgdp | rs75152012 |
| ensembl | rs75152012 |
| geneview | rs75152012 |
| scholar | rs75152012 |
| rs75152012 | |
| pharmgkb | rs75152012 |
| gwascentral | rs75152012 |
| openSNP | rs75152012 |
| 23andMe | rs75152012 |
| SNPshot | rs75152012 |
| SNPdbe | rs75152012 |
| MSV3d | rs75152012 |
| GWAS Ctlg | rs75152012 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs75152012(-;-) |
| Alt | rs75152012(-;-) |
| Reference | Rs75152012(AT;AT) |
| Significance | Untested |
| Disease | Analbuminemia |
| Variation | info |
| Gene | ALB |
| CLNDBN | Analbuminemia |
| Reversed | 0 |
| HGVS | NC_000004.11:g.74272436_74272437delAT |
| CLNSRC | ClinVar |
| CLNACC | RCV000144403.1, |
[PMID 12028999] Molecular diagnosis of analbuminemia: a novel mutation identified in two Amerindian and two Turkish families.
[PMID 16183048] Analbuminemia in a Slovak Romany (gypsy) family: case report and mutational analysis.
[PMID 17952464] A boy with congenital analbuminemia and steroid-sensitive idiopathic nephrotic syndrome: an experiment of nature.
[PMID 18602380] Analbuminemia in a Swedish male is caused by the Kayseri mutation (c228_229delAT).
[PMID 18791744] Congenital analbuminemia with acute glomerulonephritis: a diagnostic challenge.
