rs28929488
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | |
| (G;G) | 0 | common in clinvar |
| Make rs28929488(A;A) |
| Make rs28929488(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 14 |
| Position | 94304471 |
| Gene | SERPINA6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28929488 |
| dbSNP (classic) | rs28929488 |
| ClinGen | rs28929488 |
| ebi | rs28929488 |
| HLI | rs28929488 |
| Exac | rs28929488 |
| Gnomad | rs28929488 |
| Varsome | rs28929488 |
| LitVar | rs28929488 |
| Map | rs28929488 |
| PheGenI | rs28929488 |
| Biobank | rs28929488 |
| 1000 genomes | rs28929488 |
| hgdp | rs28929488 |
| ensembl | rs28929488 |
| geneview | rs28929488 |
| scholar | rs28929488 |
| rs28929488 | |
| pharmgkb | rs28929488 |
| gwascentral | rs28929488 |
| openSNP | rs28929488 |
| 23andMe | rs28929488 |
| SNPshot | rs28929488 |
| SNPdbe | rs28929488 |
| MSV3d | rs28929488 |
| GWAS Ctlg | rs28929488 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs28929488(A;A) |
| Alt | rs28929488(A;A) |
| Reference | Rs28929488(G;G) |
| Significance | Pathogenic |
| Disease | Corticosteroid-binding globulin deficiency |
| Variation | info |
| Gene | SERPINA6 |
| CLNDBN | Corticosteroid-binding globulin deficiency |
| Reversed | 1 |
| HGVS | NC_000014.8:g.94770808C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000018496.27, |
