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rs121908528

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908528(A;A)
Make rs121908528(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position240875166
GeneAGXT
is asnp
is mentioned by
dbSNPrs121908528
dbSNP (classic)rs121908528
ClinGenrs121908528
ebirs121908528
HLIrs121908528
Exacrs121908528
Gnomadrs121908528
Varsomers121908528
LitVarrs121908528
Maprs121908528
PheGenIrs121908528
Biobankrs121908528
1000 genomesrs121908528
hgdprs121908528
ensemblrs121908528
geneviewrs121908528
scholarrs121908528
googlers121908528
pharmgkbrs121908528
gwascentralrs121908528
openSNPrs121908528
23andMers121908528
SNPshotrs121908528
SNPdbers121908528
MSV3drs121908528
GWAS Ctlgrs121908528
Max Magnitude0
OMIM604285
Desc
Variant0010
Relatedalso
OMIM259900
Desc
Variant
Relatedalso
ClinVar
Risk rs121908528(A;A)
Alt rs121908528(A;A)
Reference Rs121908528(G;G)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241814583G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006003.5,