rs58695352
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs58695352(C;T) |
| Make rs58695352(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 16154755 |
| Gene | ABCC6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs58695352 |
| dbSNP (classic) | rs58695352 |
| ClinGen | rs58695352 |
| ebi | rs58695352 |
| HLI | rs58695352 |
| Exac | rs58695352 |
| Gnomad | rs58695352 |
| Varsome | rs58695352 |
| LitVar | rs58695352 |
| Map | rs58695352 |
| PheGenI | rs58695352 |
| Biobank | rs58695352 |
| 1000 genomes | rs58695352 |
| hgdp | rs58695352 |
| ensembl | rs58695352 |
| geneview | rs58695352 |
| scholar | rs58695352 |
| rs58695352 | |
| pharmgkb | rs58695352 |
| gwascentral | rs58695352 |
| openSNP | rs58695352 |
| 23andMe | rs58695352 |
| SNPshot | rs58695352 |
| SNPdbe | rs58695352 |
| MSV3d | rs58695352 |
| GWAS Ctlg | rs58695352 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs58695352(T;T) |
| Alt | rs58695352(T;T) |
| Reference | Rs58695352(C;C) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | ABCC6 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000016.9:g.16248612C>T |
| CLNSRC | |
| CLNACC | RCV000483462.1, |
[PMID 11536079
] A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.
