rs764070148
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (TT;TT) | 0 | common in clinvar |
| Make rs764070148(-;-) |
| Make rs764070148(-;TT) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 6 |
| Position | 32084567 |
| Gene | TNXB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs764070148 |
| dbSNP (classic) | rs764070148 |
| ClinGen | rs764070148 |
| ebi | rs764070148 |
| HLI | rs764070148 |
| Exac | rs764070148 |
| Gnomad | rs764070148 |
| Varsome | rs764070148 |
| LitVar | rs764070148 |
| Map | rs764070148 |
| PheGenI | rs764070148 |
| Biobank | rs764070148 |
| 1000 genomes | rs764070148 |
| hgdp | rs764070148 |
| ensembl | rs764070148 |
| geneview | rs764070148 |
| scholar | rs764070148 |
| rs764070148 | |
| pharmgkb | rs764070148 |
| gwascentral | rs764070148 |
| openSNP | rs764070148 |
| 23andMe | rs764070148 |
| SNPshot | rs764070148 |
| SNPdbe | rs764070148 |
| MSV3d | rs764070148 |
| GWAS Ctlg | rs764070148 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs764070148(-;-) |
| Alt | rs764070148(-;-) |
| Reference | Rs764070148(TT;TT) |
| Significance | Pathogenic |
| Disease | Ehlers-Danlos-like syndrome due to tenascin-X deficiency |
| Variation | info |
| Gene | TNXB |
| CLNDBN | Ehlers-Danlos-like syndrome due to tenascin-X deficiency |
| Reversed | 0 |
| HGVS | NC_000006.11:g.32052344_32052345delTT |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000009080.4, |
