Disease: Primary hyperoxaluria type 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs180177314
rs180177314
Entrez Id: 9380
Gene Symbol: GRHPR
GRHPR
CUI: C0268165
Disease:
Primary hyperoxaluria type 2 		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
Entrez Id: 9380
Gene Symbol: GRHPR
GRHPR
CUI: C0268165
Disease:
Primary hyperoxaluria type 2 		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
Entrez Id: 9380
Gene Symbol: GRHPR
GRHPR
CUI: C0268165
Disease:
Primary hyperoxaluria type 2 		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
Entrez Id: 9380
Gene Symbol: GRHPR
GRHPR
CUI: C0268165
Disease:
Primary hyperoxaluria type 2 		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
Entrez Id: 9380
Gene Symbol: GRHPR
GRHPR
CUI: C0268165
Disease:
Primary hyperoxaluria type 2 		A 0.700 CausalMutation CLINVAR