rs80356708
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 5 | Primary Hyperoxaluria |
| (-;G) | 3 | carrier of Primary Hyperoxaluria allele |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 37424864 |
| Gene | GRHPR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80356708 |
| dbSNP (classic) | rs80356708 |
| ClinGen | rs80356708 |
| ebi | rs80356708 |
| HLI | rs80356708 |
| Exac | rs80356708 |
| Gnomad | rs80356708 |
| Varsome | rs80356708 |
| LitVar | rs80356708 |
| Map | rs80356708 |
| PheGenI | rs80356708 |
| Biobank | rs80356708 |
| 1000 genomes | rs80356708 |
| hgdp | rs80356708 |
| ensembl | rs80356708 |
| geneview | rs80356708 |
| scholar | rs80356708 |
| rs80356708 | |
| pharmgkb | rs80356708 |
| gwascentral | rs80356708 |
| openSNP | rs80356708 |
| 23andMe | rs80356708 |
| SNPshot | rs80356708 |
| SNPdbe | rs80356708 |
| MSV3d | rs80356708 |
| GWAS Ctlg | rs80356708 |
| Max Magnitude | 5 |
rs80356708, also known as 103delG, is a mutation in the glyoxylate reductase/hydroxypyruvate reductase GRHPR gene.
Individuals with two defective copies of the GRHPR gene may develop Primary hyperoxaluria type 2. The rs80356708(-) allele is such a defective allele, primarily found in Northern Europeans and their descendents.
| ClinVar | |
|---|---|
| Risk | Rs80356708(-;-) |
| Alt | Rs80356708(-;-) |
| Reference | Rs80356708(G;G) |
| Significance | Pathogenic |
| Disease | Primary hyperoxaluria |
| Variation | info |
| Gene | GRHPR |
| CLNDBN | Primary hyperoxaluria, type II |
| Reversed | 0 |
| HGVS | NC_000009.11:g.37424861delG |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000005990.6, |
[PMID 10484776] The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II.
[PMID 14635115] Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2.
