rs74315109
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (ACGGAGC;ACGGAGC) | 0 | common in clinvar |
| Make rs74315109(-;-) |
| Make rs74315109(-;ACGGAGC) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 16150669 |
| Gene | ABCC6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs74315109 |
| dbSNP (classic) | rs74315109 |
| ClinGen | rs74315109 |
| ebi | rs74315109 |
| HLI | rs74315109 |
| Exac | rs74315109 |
| Gnomad | rs74315109 |
| Varsome | rs74315109 |
| LitVar | rs74315109 |
| Map | rs74315109 |
| PheGenI | rs74315109 |
| Biobank | rs74315109 |
| 1000 genomes | rs74315109 |
| hgdp | rs74315109 |
| ensembl | rs74315109 |
| geneview | rs74315109 |
| scholar | rs74315109 |
| rs74315109 | |
| pharmgkb | rs74315109 |
| gwascentral | rs74315109 |
| openSNP | rs74315109 |
| 23andMe | rs74315109 |
| SNPshot | rs74315109 |
| SNPdbe | rs74315109 |
| MSV3d | rs74315109 |
| GWAS Ctlg | rs74315109 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | |
| Alt | |
| Reference | Rs74315109(ACGGAGC;ACGGAGC) |
| Significance | Untested |
| Disease | |
| Variation | info |
| Gene | ABCC6 |
| CLNDBN | |
| Reversed | 1 |
| HGVS | NC_000016.9:g.16244526_16244532delGCTCCGT |
| CLNSRC | |
| CLNACC | |
[PMID 18253096
] ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones.
