rs63749796
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs63749796(C;C) |
| Make rs63749796(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 16159505 |
| Gene | ABCC6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63749796 |
| dbSNP (classic) | rs63749796 |
| ClinGen | rs63749796 |
| ebi | rs63749796 |
| HLI | rs63749796 |
| Exac | rs63749796 |
| Gnomad | rs63749796 |
| Varsome | rs63749796 |
| LitVar | rs63749796 |
| Map | rs63749796 |
| PheGenI | rs63749796 |
| Biobank | rs63749796 |
| 1000 genomes | rs63749796 |
| hgdp | rs63749796 |
| ensembl | rs63749796 |
| geneview | rs63749796 |
| scholar | rs63749796 |
| rs63749796 | |
| pharmgkb | rs63749796 |
| gwascentral | rs63749796 |
| openSNP | rs63749796 |
| 23andMe | rs63749796 |
| SNPshot | rs63749796 |
| SNPdbe | rs63749796 |
| MSV3d | rs63749796 |
| GWAS Ctlg | rs63749796 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs63749796(C;C) |
| Alt | rs63749796(C;C) |
| Reference | Rs63749796(G;G) |
| Significance | Pathogenic |
| Disease | Pseudoxanthoma elasticum |
| Variation | info |
| Gene | ABCC6 |
| CLNDBN | Pseudoxanthoma elasticum |
| Reversed | 1 |
| HGVS | NC_000016.9:g.16253362C>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000006959.4, |
[PMID 15086542] Novel ABCC6 mutations in pseudoxanthoma elasticum.
