rs786200939
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs786200939(C;G) |
| Make rs786200939(G;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 1 |
| Position | 1233177 |
| Gene | B3GALT6, SDF4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs786200939 |
| dbSNP (classic) | rs786200939 |
| ClinGen | rs786200939 |
| ebi | rs786200939 |
| HLI | rs786200939 |
| Exac | rs786200939 |
| Gnomad | rs786200939 |
| Varsome | rs786200939 |
| LitVar | rs786200939 |
| Map | rs786200939 |
| PheGenI | rs786200939 |
| Biobank | rs786200939 |
| 1000 genomes | rs786200939 |
| hgdp | rs786200939 |
| ensembl | rs786200939 |
| geneview | rs786200939 |
| scholar | rs786200939 |
| rs786200939 | |
| pharmgkb | rs786200939 |
| gwascentral | rs786200939 |
| openSNP | rs786200939 |
| 23andMe | rs786200939 |
| SNPshot | rs786200939 |
| SNPdbe | rs786200939 |
| MSV3d | rs786200939 |
| GWAS Ctlg | rs786200939 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs786200939(G;G) |
| Alt | rs786200939(G;G) |
| Reference | Rs786200939(C;C) |
| Significance | Pathogenic |
| Disease | Spondyloepimetaphyseal dysplasia with joint laxity |
| Variation | info |
| Gene | B3GALT6 SDF4 |
| CLNDBN | Spondyloepimetaphyseal dysplasia with joint laxity |
| Reversed | 1 |
| HGVS | NC_000001.10:g.1168557G>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000054393.4, |
