rs9924755
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs9924755(A;A) |
| Make rs9924755(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 16177552 |
| Gene | ABCC6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs9924755 |
| dbSNP (classic) | rs9924755 |
| ClinGen | rs9924755 |
| ebi | rs9924755 |
| HLI | rs9924755 |
| Exac | rs9924755 |
| Gnomad | rs9924755 |
| Varsome | rs9924755 |
| LitVar | rs9924755 |
| Map | rs9924755 |
| PheGenI | rs9924755 |
| Biobank | rs9924755 |
| 1000 genomes | rs9924755 |
| hgdp | rs9924755 |
| ensembl | rs9924755 |
| geneview | rs9924755 |
| scholar | rs9924755 |
| rs9924755 | |
| pharmgkb | rs9924755 |
| gwascentral | rs9924755 |
| openSNP | rs9924755 |
| 23andMe | rs9924755 |
| SNPshot | rs9924755 |
| SNPdbe | rs9924755 |
| MSV3d | rs9924755 |
| GWAS Ctlg | rs9924755 |
| GMAF | 0.1598 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs9924755(A;A) |
| Alt | rs9924755(A;A) |
| Reference | Rs9924755(G;G) |
| Significance | Untested |
| Disease | |
| Variation | info |
| Gene | ABCC6 |
| CLNDBN | |
| Reversed | 0 |
| HGVS | NC_000016.9:g.16271409G>A |
| CLNSRC | |
| CLNACC | |
[PMID 10835642] Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.
