Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs180177314
rs180177314
GRHPR
A 0.700 GeneticVariation CLINVAR Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing. 25629080

2015
dbSNP: rs180177314
rs180177314
GRHPR
A 0.700 GeneticVariation CLINVAR Caucasians with PH2 should be screened for the c.103delG mutation; patients from the Indian subcontinent for c.494G>A; and patients of East Asian origin (particularly) for c.864_865delTG. 24116921

2014
dbSNP: rs180177314
rs180177314
GRHPR
A 0.700 GeneticVariation CLINVAR Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2. 14635115

2003
dbSNP: rs180177314
rs180177314
GRHPR
A 0.700 GeneticVariation CLINVAR Identification of missense, nonsense, and deletion mutations in the GRHPR gene in patients with primary hyperoxaluria type II (PH2). 11030416

2000
dbSNP: rs180177314
rs180177314
GRHPR
A 0.700 CausalMutation CLINVAR