rs1871450
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs1871450(A;A) |
| Make rs1871450(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 10 |
| Position | 72012256 |
| Gene | CHST3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1871450 |
| dbSNP (classic) | rs1871450 |
| ClinGen | rs1871450 |
| ebi | rs1871450 |
| HLI | rs1871450 |
| Exac | rs1871450 |
| Gnomad | rs1871450 |
| Varsome | rs1871450 |
| LitVar | rs1871450 |
| Map | rs1871450 |
| PheGenI | rs1871450 |
| Biobank | rs1871450 |
| 1000 genomes | rs1871450 |
| hgdp | rs1871450 |
| ensembl | rs1871450 |
| geneview | rs1871450 |
| scholar | rs1871450 |
| rs1871450 | |
| pharmgkb | rs1871450 |
| gwascentral | rs1871450 |
| openSNP | rs1871450 |
| 23andMe | rs1871450 |
| SNPshot | rs1871450 |
| SNPdbe | rs1871450 |
| MSV3d | rs1871450 |
| GWAS Ctlg | rs1871450 |
| GMAF | 0.3154 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs1871450(A;A) |
| Alt | rs1871450(A;A) |
| Reference | Rs1871450(G;G) |
| Significance | Non-pathogenic |
| Disease | Skeletal dysplasia Spondyloepiphyseal dysplasia with congenital joint dislocations Spondyloepiphyseal dysplasia Larsen syndrome |
| Variation | info |
| Gene | CHST3 |
| CLNDBN | Skeletal dysplasia Spondyloepiphyseal dysplasia with congenital joint dislocations Spondyloepiphyseal dysplasia Larsen syndrome |
| Reversed | 0 |
| HGVS | NC_000010.10:g.73772014G>A |
| CLNSRC | |
| CLNACC | RCV000277899.1, RCV000332798.1, RCV000363106.1, RCV000387337.1, |
