rs397514718
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs397514718(C;T) |
| Make rs397514718(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 1232744 |
| Gene | B3GALT6, SDF4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397514718 |
| dbSNP (classic) | rs397514718 |
| ClinGen | rs397514718 |
| ebi | rs397514718 |
| HLI | rs397514718 |
| Exac | rs397514718 |
| Gnomad | rs397514718 |
| Varsome | rs397514718 |
| LitVar | rs397514718 |
| Map | rs397514718 |
| PheGenI | rs397514718 |
| Biobank | rs397514718 |
| 1000 genomes | rs397514718 |
| hgdp | rs397514718 |
| ensembl | rs397514718 |
| geneview | rs397514718 |
| scholar | rs397514718 |
| rs397514718 | |
| pharmgkb | rs397514718 |
| gwascentral | rs397514718 |
| openSNP | rs397514718 |
| 23andMe | rs397514718 |
| SNPshot | rs397514718 |
| SNPdbe | rs397514718 |
| MSV3d | rs397514718 |
| GWAS Ctlg | rs397514718 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs397514718(T;T) |
| Alt | rs397514718(T;T) |
| Reference | Rs397514718(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.1168124G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000054392.4, |
