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rs121908527

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908527(A;A)
Make rs121908527(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position240875126
GeneAGXT
is asnp
is mentioned by
dbSNPrs121908527
ebirs121908527
HLIrs121908527
Exacrs121908527
Varsomers121908527
Maprs121908527
PheGenIrs121908527
hapmaprs121908527
1000 genomesrs121908527
hgdprs121908527
ensemblrs121908527
gopubmedrs121908527
geneviewrs121908527
scholarrs121908527
googlers121908527
pharmgkbrs121908527
gwascentralrs121908527
openSNPrs121908527
23andMers121908527
23andMe allrs121908527
SNP Nexus

SNPshotrs121908527
SNPdbers121908527
MSV3drs121908527
GWAS Ctlgrs121908527
Max Magnitude0
OMIM604285
Desc
Variant0009
Relatedalso
OMIM259900
Desc
Variant
Relatedalso
ClinVar
Risk rs121908527(A,C,T;A,C,T)
Alt rs121908527(A,C,T;A,C,T)
Reference rs121908527(G;G)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241814543G>A; NC_000002.11:g.241814543G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006002.2, RCV000186329.1,