rs119490108
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs119490108(C;T) |
| Make rs119490108(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 37426545 |
| Gene | GRHPR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs119490108 |
| dbSNP (classic) | rs119490108 |
| ClinGen | rs119490108 |
| ebi | rs119490108 |
| HLI | rs119490108 |
| Exac | rs119490108 |
| Gnomad | rs119490108 |
| Varsome | rs119490108 |
| LitVar | rs119490108 |
| Map | rs119490108 |
| PheGenI | rs119490108 |
| Biobank | rs119490108 |
| 1000 genomes | rs119490108 |
| hgdp | rs119490108 |
| ensembl | rs119490108 |
| geneview | rs119490108 |
| scholar | rs119490108 |
| rs119490108 | |
| pharmgkb | rs119490108 |
| gwascentral | rs119490108 |
| openSNP | rs119490108 |
| 23andMe | rs119490108 |
| SNPshot | rs119490108 |
| SNPdbe | rs119490108 |
| MSV3d | rs119490108 |
| GWAS Ctlg | rs119490108 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs119490108(T;T) |
| Alt | rs119490108(T;T) |
| Reference | Rs119490108(C;C) |
| Significance | Pathogenic |
| Disease | Primary hyperoxaluria |
| Variation | info |
| Gene | GRHPR |
| CLNDBN | Primary hyperoxaluria, type II |
| Reversed | 0 |
| HGVS | NC_000009.11:g.37426542C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000005991.4, |
