rs12926089
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs12926089(C;T) |
| Make rs12926089(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 1452856 |
| Gene | CLCN7 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs12926089 |
| dbSNP (classic) | rs12926089 |
| ClinGen | rs12926089 |
| ebi | rs12926089 |
| HLI | rs12926089 |
| Exac | rs12926089 |
| Gnomad | rs12926089 |
| Varsome | rs12926089 |
| LitVar | rs12926089 |
| Map | rs12926089 |
| PheGenI | rs12926089 |
| Biobank | rs12926089 |
| 1000 genomes | rs12926089 |
| hgdp | rs12926089 |
| ensembl | rs12926089 |
| geneview | rs12926089 |
| scholar | rs12926089 |
| rs12926089 | |
| pharmgkb | rs12926089 |
| gwascentral | rs12926089 |
| openSNP | rs12926089 |
| 23andMe | rs12926089 |
| SNPshot | rs12926089 |
| SNPdbe | rs12926089 |
| MSV3d | rs12926089 |
| GWAS Ctlg | rs12926089 |
| GMAF | 0.09183 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 16120485] Analysis of variation in expression of autosomal dominant osteopetrosis type 2: searching for modifier genes.
[PMID 16234969] Polymorphisms of the CLCN7 gene are associated with BMD in women.
[PMID 18755304
] CLCN7 polymorphisms and bone mineral density in healthy premenopausal white women and in white men.
| ClinVar | |
|---|---|
| Risk | rs12926089(T;T) |
| Alt | rs12926089(T;T) |
| Reference | Rs12926089(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | Osteopetrosis autosomal recessive 4 not specified Osteopetrosis |
| Variation | info |
| Gene | CLCN7 |
| CLNDBN | Osteopetrosis autosomal recessive 4 not specified Osteopetrosis |
| Reversed | 0 |
| HGVS | NC_000016.9:g.1502857C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000055845.1, RCV000251178.2, RCV000338192.1, |
