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rs121908529

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908529(C;C)
Make rs121908529(C;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position240871433
GeneAGXT
is asnp
is mentioned by
dbSNPrs121908529
dbSNP (classic)rs121908529
ClinGenrs121908529
ebirs121908529
HLIrs121908529
Exacrs121908529
Gnomadrs121908529
Varsomers121908529
LitVarrs121908529
Maprs121908529
PheGenIrs121908529
Biobankrs121908529
1000 genomesrs121908529
hgdprs121908529
ensemblrs121908529
geneviewrs121908529
scholarrs121908529
googlers121908529
pharmgkbrs121908529
gwascentralrs121908529
openSNPrs121908529
23andMers121908529
SNPshotrs121908529
SNPdbers121908529
MSV3drs121908529
GWAS Ctlgrs121908529
Max Magnitude0
OMIM604285
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908529(A;A) rs121908529(C;C)
Alt rs121908529(A;A) rs121908529(C;C)
Reference Rs121908529(G;G)
Significance Pathogenic
Disease Primary hyperoxaluria not provided
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I not provided
Reversed 0
HGVS NC_000002.11:g.241810850G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000032681.6, RCV000432954.1,