rs4148950
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs4148950(A;A) |
| Make rs4148950(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 10 |
| Position | 72011948 |
| Gene | CHST3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4148950 |
| dbSNP (classic) | rs4148950 |
| ClinGen | rs4148950 |
| ebi | rs4148950 |
| HLI | rs4148950 |
| Exac | rs4148950 |
| Gnomad | rs4148950 |
| Varsome | rs4148950 |
| LitVar | rs4148950 |
| Map | rs4148950 |
| PheGenI | rs4148950 |
| Biobank | rs4148950 |
| 1000 genomes | rs4148950 |
| hgdp | rs4148950 |
| ensembl | rs4148950 |
| geneview | rs4148950 |
| scholar | rs4148950 |
| rs4148950 | |
| pharmgkb | rs4148950 |
| gwascentral | rs4148950 |
| openSNP | rs4148950 |
| 23andMe | rs4148950 |
| SNPshot | rs4148950 |
| SNPdbe | rs4148950 |
| MSV3d | rs4148950 |
| GWAS Ctlg | rs4148950 |
| GMAF | 0.3154 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs4148950(A;A) |
| Alt | rs4148950(A;A) |
| Reference | Rs4148950(G;G) |
| Significance | Non-pathogenic |
| Disease | Larsen syndrome Spondyloepiphyseal dysplasia Spondyloepiphyseal dysplasia with congenital joint dislocations Skeletal dysplasia |
| Variation | info |
| Gene | CHST3 |
| CLNDBN | Larsen syndrome Spondyloepiphyseal dysplasia Spondyloepiphyseal dysplasia with congenital joint dislocations Skeletal dysplasia |
| Reversed | 0 |
| HGVS | NC_000010.10:g.73771706G>A |
| CLNSRC | |
| CLNACC | RCV000259512.1, RCV000304292.1, RCV000317109.1, RCV000361298.1, |
