rs201010803
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs201010803(A;A) |
| Make rs201010803(A;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 12 |
| Position | 123704670 |
| Gene | TCTN2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs201010803 |
| dbSNP (classic) | rs201010803 |
| ClinGen | rs201010803 |
| ebi | rs201010803 |
| HLI | rs201010803 |
| Exac | rs201010803 |
| Gnomad | rs201010803 |
| Varsome | rs201010803 |
| LitVar | rs201010803 |
| Map | rs201010803 |
| PheGenI | rs201010803 |
| Biobank | rs201010803 |
| 1000 genomes | rs201010803 |
| hgdp | rs201010803 |
| ensembl | rs201010803 |
| geneview | rs201010803 |
| scholar | rs201010803 |
| rs201010803 | |
| pharmgkb | rs201010803 |
| gwascentral | rs201010803 |
| openSNP | rs201010803 |
| 23andMe | rs201010803 |
| SNPshot | rs201010803 |
| SNPdbe | rs201010803 |
| MSV3d | rs201010803 |
| GWAS Ctlg | rs201010803 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs201010803(A;A) |
| Alt | rs201010803(A;A) |
| Reference | Rs201010803(T;T) |
| Significance | Pathogenic |
| Disease | Joubert syndrome |
| Variation | info |
| Gene | TCTN2 |
| CLNDBN | Joubert syndrome |
| Reversed | 0 |
| HGVS | NC_000012.11:g.124189217T>A |
| CLNSRC | |
| CLNACC | RCV000201600.1, |
