rs796052171
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs796052171(A;T) |
| Make rs796052171(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 3 |
| Position | 8733913 |
| Gene | CAV3, SSUH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs796052171 |
| dbSNP (classic) | rs796052171 |
| ClinGen | rs796052171 |
| ebi | rs796052171 |
| HLI | rs796052171 |
| Exac | rs796052171 |
| Gnomad | rs796052171 |
| Varsome | rs796052171 |
| LitVar | rs796052171 |
| Map | rs796052171 |
| PheGenI | rs796052171 |
| Biobank | rs796052171 |
| 1000 genomes | rs796052171 |
| hgdp | rs796052171 |
| ensembl | rs796052171 |
| geneview | rs796052171 |
| scholar | rs796052171 |
| rs796052171 | |
| pharmgkb | rs796052171 |
| gwascentral | rs796052171 |
| openSNP | rs796052171 |
| 23andMe | rs796052171 |
| SNPshot | rs796052171 |
| SNPdbe | rs796052171 |
| MSV3d | rs796052171 |
| GWAS Ctlg | rs796052171 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs796052171(T;T) |
| Alt | rs796052171(T;T) |
| Reference | Rs796052171(A;A) |
| Significance | Probable-Pathogenic |
| Disease | Long QT syndrome |
| Variation | info |
| Gene | SSUH2 CAV3 |
| CLNDBN | Long QT syndrome |
| Reversed | 0 |
| HGVS | NC_000003.11:g.8775599A>T |
| CLNSRC | |
| CLNACC | RCV000190168.1, |
