rs760830696
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs760830696(-;-) |
| Make rs760830696(-;C) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 12 |
| Position | 123686974 |
| Gene | TCTN2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs760830696 |
| dbSNP (classic) | rs760830696 |
| ClinGen | rs760830696 |
| ebi | rs760830696 |
| HLI | rs760830696 |
| Exac | rs760830696 |
| Gnomad | rs760830696 |
| Varsome | rs760830696 |
| LitVar | rs760830696 |
| Map | rs760830696 |
| PheGenI | rs760830696 |
| Biobank | rs760830696 |
| 1000 genomes | rs760830696 |
| hgdp | rs760830696 |
| ensembl | rs760830696 |
| geneview | rs760830696 |
| scholar | rs760830696 |
| rs760830696 | |
| pharmgkb | rs760830696 |
| gwascentral | rs760830696 |
| openSNP | rs760830696 |
| 23andMe | rs760830696 |
| SNPshot | rs760830696 |
| SNPdbe | rs760830696 |
| MSV3d | rs760830696 |
| GWAS Ctlg | rs760830696 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs760830696(-;-) |
| Alt | rs760830696(-;-) |
| Reference | Rs760830696(C;C) |
| Significance | Pathogenic |
| Disease | Meckel syndrome type 8 not provided |
| Variation | info |
| Gene | TCTN2 |
| CLNDBN | Meckel syndrome type 8 not provided |
| Reversed | 0 |
| HGVS | NC_000012.11:g.124171521delC |
| CLNSRC | |
| CLNACC | RCV000194845.1, RCV000338833.1, |
