rs187433682
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs187433682(A;A) |
| Make rs187433682(A;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 12 |
| Position | 123694859 |
| Gene | TCTN2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs187433682 |
| dbSNP (classic) | rs187433682 |
| ClinGen | rs187433682 |
| ebi | rs187433682 |
| HLI | rs187433682 |
| Exac | rs187433682 |
| Gnomad | rs187433682 |
| Varsome | rs187433682 |
| LitVar | rs187433682 |
| Map | rs187433682 |
| PheGenI | rs187433682 |
| Biobank | rs187433682 |
| 1000 genomes | rs187433682 |
| hgdp | rs187433682 |
| ensembl | rs187433682 |
| geneview | rs187433682 |
| scholar | rs187433682 |
| rs187433682 | |
| pharmgkb | rs187433682 |
| gwascentral | rs187433682 |
| openSNP | rs187433682 |
| 23andMe | rs187433682 |
| SNPshot | rs187433682 |
| SNPdbe | rs187433682 |
| MSV3d | rs187433682 |
| GWAS Ctlg | rs187433682 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs187433682(A;A) |
| Alt | rs187433682(A;A) |
| Reference | Rs187433682(G;G) |
| Significance | Other |
| Disease | Joubert syndrome Meckel-Gruber syndrome |
| Variation | info |
| Gene | TCTN2 |
| CLNDBN | Joubert syndrome Meckel-Gruber syndrome |
| Reversed | 0 |
| HGVS | NC_000012.11:g.124179406G>A |
| CLNSRC | |
| CLNACC | RCV000201680.3, RCV000310999.1, |
