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rs121908530

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908530(A;A)
Make rs121908530(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position240871391
GeneAGXT
is asnp
is mentioned by
dbSNPrs121908530
ebirs121908530
HLIrs121908530
Exacrs121908530
Varsomers121908530
Maprs121908530
PheGenIrs121908530
hapmaprs121908530
1000 genomesrs121908530
hgdprs121908530
ensemblrs121908530
gopubmedrs121908530
geneviewrs121908530
scholarrs121908530
googlers121908530
pharmgkbrs121908530
gwascentralrs121908530
openSNPrs121908530
23andMers121908530
23andMe allrs121908530
SNP Nexus

SNPshotrs121908530
SNPdbers121908530
MSV3drs121908530
GWAS Ctlgrs121908530
Max Magnitude0
OMIM604285
Desc
Variant0012
Relatedalso
OMIM259900
Desc
Variant
Relatedalso
ClinVar
Risk rs121908530(A;A)
Alt rs121908530(A;A)
Reference rs121908530(G;G)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241810808G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006004.4,