rs864321696
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| Make rs864321696(-;T) |
| Make rs864321696(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 9 |
| Position | 69240019 |
| Gene | TJP2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs864321696 |
| dbSNP (classic) | rs864321696 |
| ClinGen | rs864321696 |
| ebi | rs864321696 |
| HLI | rs864321696 |
| Exac | rs864321696 |
| Gnomad | rs864321696 |
| Varsome | rs864321696 |
| LitVar | rs864321696 |
| Map | rs864321696 |
| PheGenI | rs864321696 |
| Biobank | rs864321696 |
| 1000 genomes | rs864321696 |
| hgdp | rs864321696 |
| ensembl | rs864321696 |
| geneview | rs864321696 |
| scholar | rs864321696 |
| rs864321696 | |
| pharmgkb | rs864321696 |
| gwascentral | rs864321696 |
| openSNP | rs864321696 |
| 23andMe | rs864321696 |
| SNPshot | rs864321696 |
| SNPdbe | rs864321696 |
| MSV3d | rs864321696 |
| GWAS Ctlg | rs864321696 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs864321696(T;T) |
| Alt | rs864321696(T;T) |
| Reference | Rs864321696(-;-) |
| Significance | Pathogenic |
| Disease | Progressive familial intrahepatic cholestasis 4 |
| Variation | info |
| Gene | TJP2 |
| CLNDBN | Progressive familial intrahepatic cholestasis 4 |
| Reversed | 0 |
| HGVS | NC_000009.11:g.71854935dupT |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000203571.2, |
