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rs121908522

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908522(A;A)
Make rs121908522(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position240869249
GeneAGXT
is asnp
is mentioned by
dbSNPrs121908522
dbSNP (classic)rs121908522
ClinGenrs121908522
ebirs121908522
HLIrs121908522
Exacrs121908522
Gnomadrs121908522
Varsomers121908522
LitVarrs121908522
Maprs121908522
PheGenIrs121908522
Biobankrs121908522
1000 genomesrs121908522
hgdprs121908522
ensemblrs121908522
geneviewrs121908522
scholarrs121908522
googlers121908522
pharmgkbrs121908522
gwascentralrs121908522
openSNPrs121908522
23andMers121908522
SNPshotrs121908522
SNPdbers121908522
MSV3drs121908522
GWAS Ctlgrs121908522
Max Magnitude0
OMIM604285
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121908522(A;A)
Alt rs121908522(A;A)
Reference Rs121908522(G;G)
Significance Other
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241808666G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005997.5,