rs59757815
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs59757815(A;T) |
| Make rs59757815(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 16 |
| Position | 16182484 |
| Gene | ABCC6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs59757815 |
| dbSNP (classic) | rs59757815 |
| ClinGen | rs59757815 |
| ebi | rs59757815 |
| HLI | rs59757815 |
| Exac | rs59757815 |
| Gnomad | rs59757815 |
| Varsome | rs59757815 |
| LitVar | rs59757815 |
| Map | rs59757815 |
| PheGenI | rs59757815 |
| Biobank | rs59757815 |
| 1000 genomes | rs59757815 |
| hgdp | rs59757815 |
| ensembl | rs59757815 |
| geneview | rs59757815 |
| scholar | rs59757815 |
| rs59757815 | |
| pharmgkb | rs59757815 |
| gwascentral | rs59757815 |
| openSNP | rs59757815 |
| 23andMe | rs59757815 |
| SNPshot | rs59757815 |
| SNPdbe | rs59757815 |
| MSV3d | rs59757815 |
| GWAS Ctlg | rs59757815 |
| GMAF | 0.01974 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs59757815(T;T) |
| Alt | rs59757815(T;T) |
| Reference | Rs59757815(A;A) |
| Significance | Untested |
| Disease | |
| Variation | info |
| Gene | ABCC6 |
| CLNDBN | |
| Reversed | 1 |
| HGVS | NC_000016.9:g.16276341T>A |
| CLNSRC | |
| CLNACC | |
[PMID 16086317] Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.
