rs140005285
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs140005285(C;C) |
| Make rs140005285(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 139911233 |
| Gene | TBXAS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs140005285 |
| dbSNP (classic) | rs140005285 |
| ClinGen | rs140005285 |
| ebi | rs140005285 |
| HLI | rs140005285 |
| Exac | rs140005285 |
| Gnomad | rs140005285 |
| Varsome | rs140005285 |
| LitVar | rs140005285 |
| Map | rs140005285 |
| PheGenI | rs140005285 |
| Biobank | rs140005285 |
| 1000 genomes | rs140005285 |
| hgdp | rs140005285 |
| ensembl | rs140005285 |
| geneview | rs140005285 |
| scholar | rs140005285 |
| rs140005285 | |
| pharmgkb | rs140005285 |
| gwascentral | rs140005285 |
| openSNP | rs140005285 |
| 23andMe | rs140005285 |
| SNPshot | rs140005285 |
| SNPdbe | rs140005285 |
| MSV3d | rs140005285 |
| GWAS Ctlg | rs140005285 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs140005285(C;C) |
| Alt | rs140005285(C;C) |
| Reference | Rs140005285(T;T) |
| Significance | Pathogenic |
| Disease | Ghosal hematodiaphyseal syndrome not specified |
| Variation | info |
| Gene | TBXAS1 |
| CLNDBN | Ghosal hematodiaphyseal syndrome not specified |
| Reversed | 0 |
| HGVS | NC_000007.13:g.139611032T>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000012662.22, RCV000178142.1, |
