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rs121908524

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908524(A;A)
Make rs121908524(A;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position240871379
GeneAGXT
is asnp
is mentioned by
dbSNPrs121908524
dbSNP (classic)rs121908524
ClinGenrs121908524
ebirs121908524
HLIrs121908524
Exacrs121908524
Gnomadrs121908524
Varsomers121908524
LitVarrs121908524
Maprs121908524
PheGenIrs121908524
Biobankrs121908524
1000 genomesrs121908524
hgdprs121908524
ensemblrs121908524
geneviewrs121908524
scholarrs121908524
googlers121908524
pharmgkbrs121908524
gwascentralrs121908524
openSNPrs121908524
23andMers121908524
SNPshotrs121908524
SNPdbers121908524
MSV3drs121908524
GWAS Ctlgrs121908524
Max Magnitude0
OMIM604285
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121908524(A;A)
Alt rs121908524(A;A)
Reference Rs121908524(T;T)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241810796T>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005999.5,