rs3045
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs3045(C;C) |
| Make rs3045(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 14711166 |
| Gene | ANKH, LOC100130744, OTULIN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3045 |
| dbSNP (classic) | rs3045 |
| ClinGen | rs3045 |
| ebi | rs3045 |
| HLI | rs3045 |
| Exac | rs3045 |
| Gnomad | rs3045 |
| Varsome | rs3045 |
| LitVar | rs3045 |
| Map | rs3045 |
| PheGenI | rs3045 |
| Biobank | rs3045 |
| 1000 genomes | rs3045 |
| hgdp | rs3045 |
| ensembl | rs3045 |
| geneview | rs3045 |
| scholar | rs3045 |
| rs3045 | |
| pharmgkb | rs3045 |
| gwascentral | rs3045 |
| openSNP | rs3045 |
| 23andMe | rs3045 |
| SNPshot | rs3045 |
| SNPdbe | rs3045 |
| MSV3d | rs3045 |
| GWAS Ctlg | rs3045 |
| GMAF | 0.05601 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 24467728
] The association between ANKH promoter polymorphism and chondrocalcinosis is independent of age and osteoarthritis: results of a case-control study
| ClinVar | |
|---|---|
| Risk | rs3045(C;C) |
| Alt | rs3045(C;C) |
| Reference | Rs3045(T;T) |
| Significance | Non-pathogenic |
| Disease | Craniometaphyseal dysplasia Chondrocalcinosis |
| Variation | info |
| Gene | ANKH LOC100130744 |
| CLNDBN | Craniometaphyseal dysplasia Chondrocalcinosis |
| Reversed | 0 |
| HGVS | NC_000005.9:g.14711275T>C |
| CLNSRC | |
| CLNACC | RCV000318528.1, RCV000375465.1, |
