rs772724819
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common/normal |
| (G;T) | 3 | Carrier of a pathogenic mutation for osteopetrosis |
| (T;T) | 5.8 | Osteopetrosis, type 8 |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 7 |
| Position | 26364636 |
| Gene | SNX10 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs772724819 |
| dbSNP (classic) | rs772724819 |
| ClinGen | rs772724819 |
| ebi | rs772724819 |
| HLI | rs772724819 |
| Exac | rs772724819 |
| Gnomad | rs772724819 |
| Varsome | rs772724819 |
| LitVar | rs772724819 |
| Map | rs772724819 |
| PheGenI | rs772724819 |
| Biobank | rs772724819 |
| 1000 genomes | rs772724819 |
| hgdp | rs772724819 |
| ensembl | rs772724819 |
| geneview | rs772724819 |
| scholar | rs772724819 |
| rs772724819 | |
| pharmgkb | rs772724819 |
| gwascentral | rs772724819 |
| openSNP | rs772724819 |
| 23andMe | rs772724819 |
| SNPshot | rs772724819 |
| SNPdbe | rs772724819 |
| MSV3d | rs772724819 |
| GWAS Ctlg | rs772724819 |
| Max Magnitude | 5.8 |
rs772724819, also known as c.212+1G>T, is a rare variant in the SNX10 gene.
rs772724819(T) is considered a recessively inherited mutation pathogenic for osteopetrosis, type 8.[PMID 28592808
]
In Northern Sweden, a study of nine individuals with this mutation showed (via haplotype analysis) that all cases originated from a single mutational event, and the age of the mutation was estimated to be approximately 950 years.[PMID 28592808]
