Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs180177304
rs180177304
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: rs180177307
rs180177307
GRHPR
T 0.700 GeneticVariation CLINVAR Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria. 25644115

2015
dbSNP: rs180177313
rs180177313
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 Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing. 25629080

2015
dbSNP: rs180177319
rs180177319
GRHPR
G 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs771019056
rs771019056
GRHPR
CA 0.700 GeneticVariation CLINVAR Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria. 25644115

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: rs180177319
rs180177319
GRHPR
G 0.700 CausalMutation CLINVAR Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2. 24116921

2014
dbSNP: rs180177321
rs180177321
GRHPR
C 0.700 GeneticVariation CLINVAR Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2. 24116921

2014
dbSNP: rs80356708
rs80356708
GRHPR
T 0.700 CausalMutation CLINVAR The case: A boy with recurrent stones. 18560364

2008
dbSNP: rs180177307
rs180177307
GRHPR
A 0.700 GeneticVariation CLINVAR A novel mutation in the GRHPR gene in a Japanese patient with primary hyperoxaluria type 2. 17510093

2007
dbSNP: rs180177316
rs180177316
GRHPR
C 0.700 CausalMutation CLINVAR Tissue differences in the expression of mutations and polymorphisms in the GRHPR gene and implications for diagnosis of primary hyperoxaluria type 2. 16306119

2005
dbSNP: rs80356708
rs80356708
GRHPR
T 0.700 CausalMutation CLINVAR Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias. 15327387

2004
dbSNP: rs180177309
rs180177309
GRHPR
G 0.700 CausalMutation 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 Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2. 14635115

2003
dbSNP: rs180177316
rs180177316
GRHPR
C 0.700 CausalMutation CLINVAR Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2. 14635115

2003
dbSNP: rs180177319
rs180177319
GRHPR
G 0.700 CausalMutation CLINVAR Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2. 14635115

2003
dbSNP: rs80356708
rs80356708
GRHPR
T 0.700 CausalMutation CLINVAR Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2. 14635115

2003
dbSNP: rs80356708
rs80356708
GRHPR
T 0.700 CausalMutation CLINVAR Primary hyperoxaluria type 2 in children. 12185464

2002
dbSNP: rs180177316
rs180177316
GRHPR
C 0.700 CausalMutation CLINVAR Primary hyperoxaluria type 2 without L-glycericaciduria: is the disease under-diagnosed? 11477177

2001
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: rs180177317
rs180177317
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: rs80356708
rs80356708
GRHPR
T 0.700 CausalMutation CLINVAR The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II. 10484776

1999
dbSNP: rs1057516292
rs1057516292
GRHPR
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516299
rs1057516299
GRHPR
G 0.700 GeneticVariation CLINVAR