rs58694313
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs58694313(A;A) |
| Make rs58694313(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 16 |
| Position | 16157674 |
| Gene | ABCC6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs58694313 |
| dbSNP (classic) | rs58694313 |
| ClinGen | rs58694313 |
| ebi | rs58694313 |
| HLI | rs58694313 |
| Exac | rs58694313 |
| Gnomad | rs58694313 |
| Varsome | rs58694313 |
| LitVar | rs58694313 |
| Map | rs58694313 |
| PheGenI | rs58694313 |
| Biobank | rs58694313 |
| 1000 genomes | rs58694313 |
| hgdp | rs58694313 |
| ensembl | rs58694313 |
| geneview | rs58694313 |
| scholar | rs58694313 |
| rs58694313 | |
| pharmgkb | rs58694313 |
| gwascentral | rs58694313 |
| openSNP | rs58694313 |
| 23andMe | rs58694313 |
| SNPshot | rs58694313 |
| SNPdbe | rs58694313 |
| MSV3d | rs58694313 |
| GWAS Ctlg | rs58694313 |
| GMAF | 0.02801 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs58694313(A;A) |
| Alt | rs58694313(A;A) |
| Reference | Rs58694313(G;G) |
| Significance | Non-pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | ABCC6 |
| CLNDBN | not specified |
| Reversed | 1 |
| HGVS | NC_000016.9:g.16251531C>T |
| CLNSRC | |
| CLNACC | RCV000420584.1, |
[PMID 18253096
] ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones.
