rs72547524
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs72547524(A;A) |
| Make rs72547524(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 16 |
| Position | 16150606 |
| Gene | ABCC6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs72547524 |
| dbSNP (classic) | rs72547524 |
| ClinGen | rs72547524 |
| ebi | rs72547524 |
| HLI | rs72547524 |
| Exac | rs72547524 |
| Gnomad | rs72547524 |
| Varsome | rs72547524 |
| LitVar | rs72547524 |
| Map | rs72547524 |
| PheGenI | rs72547524 |
| Biobank | rs72547524 |
| 1000 genomes | rs72547524 |
| hgdp | rs72547524 |
| ensembl | rs72547524 |
| geneview | rs72547524 |
| scholar | rs72547524 |
| rs72547524 | |
| pharmgkb | rs72547524 |
| gwascentral | rs72547524 |
| openSNP | rs72547524 |
| 23andMe | rs72547524 |
| SNPshot | rs72547524 |
| SNPdbe | rs72547524 |
| MSV3d | rs72547524 |
| GWAS Ctlg | rs72547524 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs72547524(A;A) |
| Alt | rs72547524(A;A) |
| Reference | Rs72547524(G;G) |
| Significance | Pathogenic |
| Disease | Pseudoxanthoma elasticum not specified |
| Variation | info |
| Gene | ABCC6 |
| CLNDBN | Pseudoxanthoma elasticum not specified |
| Reversed | 0 |
| HGVS | NC_000016.9:g.16244463G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000006955.3, RCV000455869.1, |
