rs3740129
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs3740129(A;A) |
| Make rs3740129(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 10 |
| Position | 72008101 |
| Gene | CHST3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3740129 |
| dbSNP (classic) | rs3740129 |
| ClinGen | rs3740129 |
| ebi | rs3740129 |
| HLI | rs3740129 |
| Exac | rs3740129 |
| Gnomad | rs3740129 |
| Varsome | rs3740129 |
| LitVar | rs3740129 |
| Map | rs3740129 |
| PheGenI | rs3740129 |
| Biobank | rs3740129 |
| 1000 genomes | rs3740129 |
| hgdp | rs3740129 |
| ensembl | rs3740129 |
| geneview | rs3740129 |
| scholar | rs3740129 |
| rs3740129 | |
| pharmgkb | rs3740129 |
| gwascentral | rs3740129 |
| openSNP | rs3740129 |
| 23andMe | rs3740129 |
| SNPshot | rs3740129 |
| SNPdbe | rs3740129 |
| MSV3d | rs3740129 |
| GWAS Ctlg | rs3740129 |
| GMAF | 0.287 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs3740129(A;A) |
| Alt | rs3740129(A;A) |
| Reference | Rs3740129(G;G) |
| Significance | Non-pathogenic |
| Disease | Spondyloepiphyseal dysplasia with congenital joint dislocations Spondyloepiphyseal dysplasia Larsen syndrome Skeletal dysplasia not specified |
| Variation | info |
| Gene | CHST3 |
| CLNDBN | Spondyloepiphyseal dysplasia with congenital joint dislocations Spondyloepiphyseal dysplasia Larsen syndrome Skeletal dysplasia not specified |
| Reversed | 0 |
| HGVS | NC_000010.10:g.73767859G>A |
| CLNSRC | |
| CLNACC | RCV000284253.1, RCV000287863.1, RCV000342801.1, RCV000378701.1, RCV000408312.1, |
