rs796052077
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (GC;GC) | 0 | common in clinvar |
| Make rs796052077(AT;AT) |
| Make rs796052077(AT;GC) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 9 |
| Position | 37422747 |
| Gene | GRHPR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs796052077 |
| dbSNP (classic) | rs796052077 |
| ClinGen | rs796052077 |
| ebi | rs796052077 |
| HLI | rs796052077 |
| Exac | rs796052077 |
| Gnomad | rs796052077 |
| Varsome | rs796052077 |
| LitVar | rs796052077 |
| Map | rs796052077 |
| PheGenI | rs796052077 |
| Biobank | rs796052077 |
| 1000 genomes | rs796052077 |
| hgdp | rs796052077 |
| ensembl | rs796052077 |
| geneview | rs796052077 |
| scholar | rs796052077 |
| rs796052077 | |
| pharmgkb | rs796052077 |
| gwascentral | rs796052077 |
| openSNP | rs796052077 |
| 23andMe | rs796052077 |
| SNPshot | rs796052077 |
| SNPdbe | rs796052077 |
| MSV3d | rs796052077 |
| GWAS Ctlg | rs796052077 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs796052077(AT;AT) |
| Alt | rs796052077(AT;AT) |
| Reference | Rs796052077(GC;GC) |
| Significance | Pathogenic |
| Disease | Primary hyperoxaluria |
| Variation | info |
| Gene | GRHPR |
| CLNDBN | Primary hyperoxaluria, type II |
| Reversed | 0 |
| HGVS | NC_000009.11:g.37422744_37422745delGCinsAT |
| CLNSRC | |
| CLNACC | RCV000186437.1, |
