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rs121908526

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908526(C;T)
Make rs121908526(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position240875125
GeneAGXT
is asnp
is mentioned by
dbSNPrs121908526
ebirs121908526
HLIrs121908526
Exacrs121908526
Varsomers121908526
Maprs121908526
PheGenIrs121908526
hapmaprs121908526
1000 genomesrs121908526
hgdprs121908526
ensemblrs121908526
gopubmedrs121908526
geneviewrs121908526
scholarrs121908526
googlers121908526
pharmgkbrs121908526
gwascentralrs121908526
openSNPrs121908526
23andMers121908526
23andMe allrs121908526
SNP Nexus

SNPshotrs121908526
SNPdbers121908526
MSV3drs121908526
GWAS Ctlgrs121908526
Max Magnitude0
OMIM604285
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121908526(T;T)
Alt rs121908526(T;T)
Reference rs121908526(C;C)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241814542C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006001.4,