rs587777490
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a pathogenic mutation for osteopetrosis |
| (T;T) | 5.8 | Osteopetrosis, type 8 |
| Reference | GRCh38 38.1/142 |
| Chromosome | 7 |
| Position | 26360996 |
| Gene | SNX10 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs587777490 |
| dbSNP (classic) | rs587777490 |
| ClinGen | rs587777490 |
| ebi | rs587777490 |
| HLI | rs587777490 |
| Exac | rs587777490 |
| Gnomad | rs587777490 |
| Varsome | rs587777490 |
| LitVar | rs587777490 |
| Map | rs587777490 |
| PheGenI | rs587777490 |
| Biobank | rs587777490 |
| 1000 genomes | rs587777490 |
| hgdp | rs587777490 |
| ensembl | rs587777490 |
| geneview | rs587777490 |
| scholar | rs587777490 |
| rs587777490 | |
| pharmgkb | rs587777490 |
| gwascentral | rs587777490 |
| openSNP | rs587777490 |
| 23andMe | rs587777490 |
| SNPshot | rs587777490 |
| SNPdbe | rs587777490 |
| MSV3d | rs587777490 |
| GWAS Ctlg | rs587777490 |
| Max Magnitude | 5.8 |
SNX10 gene, c.46C>T (p.Arg16Ter)
rs587777490(T) is considered a recessively inherited mutation pathogenic for osteopetrosis, type 8.
| ClinVar | |
|---|---|
| Risk | Rs587777490(T;T) |
| Alt | Rs587777490(T;T) |
| Reference | Rs587777490(C;C) |
| Significance | Pathogenic |
| Disease | Osteopetrosis |
| Variation | info |
| Gene | SNX10 |
| CLNDBN | Osteopetrosis, autosomal recessive 8 |
| Reversed | 0 |
| HGVS | NC_000007.13:g.26400616C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000128452.2, |
