rs770612890
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs770612890(-;-) |
| Make rs770612890(-;C) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 13 |
| Position | 20223418 |
| Gene | GJB6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs770612890 |
| dbSNP (classic) | rs770612890 |
| ClinGen | rs770612890 |
| ebi | rs770612890 |
| HLI | rs770612890 |
| Exac | rs770612890 |
| Gnomad | rs770612890 |
| Varsome | rs770612890 |
| LitVar | rs770612890 |
| Map | rs770612890 |
| PheGenI | rs770612890 |
| Biobank | rs770612890 |
| 1000 genomes | rs770612890 |
| hgdp | rs770612890 |
| ensembl | rs770612890 |
| geneview | rs770612890 |
| scholar | rs770612890 |
| rs770612890 | |
| pharmgkb | rs770612890 |
| gwascentral | rs770612890 |
| openSNP | rs770612890 |
| 23andMe | rs770612890 |
| SNPshot | rs770612890 |
| SNPdbe | rs770612890 |
| MSV3d | rs770612890 |
| GWAS Ctlg | rs770612890 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs770612890(-;-) |
| Alt | rs770612890(-;-) |
| Reference | Rs770612890(C;C) |
| Significance | Probable-Pathogenic |
| Disease | GJB6-related disorders Hidrotic ectodermal dysplasia syndrome not provided |
| Variation | info |
| Gene | GJB6 |
| CLNDBN | GJB6-related disorders Hidrotic ectodermal dysplasia syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000013.10:g.20797557delC |
| CLNSRC | |
| CLNACC | RCV000354367.1, RCV000409500.1, RCV000440483.1, |
