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rs80356708

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 5 Primary Hyperoxaluria
(-;G) 3 carrier of Primary Hyperoxaluria allele
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome9
Position37424864
GeneGRHPR
is asnp
is mentioned by
dbSNPrs80356708
ebirs80356708
HLIrs80356708
Exacrs80356708
Varsomers80356708
Maprs80356708
PheGenIrs80356708
hapmaprs80356708
1000 genomesrs80356708
hgdprs80356708
ensemblrs80356708
gopubmedrs80356708
geneviewrs80356708
scholarrs80356708
googlers80356708
pharmgkbrs80356708
gwascentralrs80356708
openSNPrs80356708
23andMers80356708
23andMe allrs80356708
SNP Nexus

SNPshotrs80356708
SNPdbers80356708
MSV3drs80356708
GWAS Ctlgrs80356708
Max Magnitude5

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.

OMIM604296
Desc
Variant0001
Relatedalso
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 RCV000005990.5,


[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.