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rs180177309

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAGT;AAGT) 0 common in clinvar
Make rs180177309(-;-)
Make rs180177309(-;AAGT)
ReferenceGRCh38 38.1/141
Chromosome9
Position37426653
GeneGRHPR
is asnp
is mentioned by
dbSNPrs180177309
ebirs180177309
HLIrs180177309
Exacrs180177309
Varsomers180177309
Maprs180177309
PheGenIrs180177309
hapmaprs180177309
1000 genomesrs180177309
hgdprs180177309
ensemblrs180177309
gopubmedrs180177309
geneviewrs180177309
scholarrs180177309
googlers180177309
pharmgkbrs180177309
gwascentralrs180177309
openSNPrs180177309
23andMers180177309
23andMe allrs180177309
SNP Nexus

SNPshotrs180177309
SNPdbers180177309
MSV3drs180177309
GWAS Ctlgrs180177309
Max Magnitude0
ClinVar
Risk rs180177309(;)
Alt rs180177309(;)
Reference rs180177309(AAGT;AAGT)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene GRHPR
CLNDBN Primary hyperoxaluria, type II
Reversed 0
HGVS NC_000009.11:g.37426650_37428483del1834; NC_000009.11:g.37426654_37426657delAAGT
CLNSRC
CLNACC RCV000020678.2, RCV000186457.1,


[PMID 14635115] Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2.