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rs121908523

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar


Make rs121908523(A;A)
ReferenceGRCh38 38.1/141
Chromosome2
Position240868986
GeneAGXT
is asnp
is mentioned by
dbSNPrs121908523
dbSNP (classic)rs121908523
ClinGenrs121908523
ebirs121908523
HLIrs121908523
Exacrs121908523
Gnomadrs121908523
Varsomers121908523
LitVarrs121908523
Maprs121908523
PheGenIrs121908523
Biobankrs121908523
1000 genomesrs121908523
hgdprs121908523
ensemblrs121908523
geneviewrs121908523
scholarrs121908523
googlers121908523
pharmgkbrs121908523
gwascentralrs121908523
openSNPrs121908523
23andMers121908523
SNPshotrs121908523
SNPdbers121908523
MSV3drs121908523
GWAS Ctlgrs121908523
Max Magnitude0

aka c.121G>A (p.Gly41Arg)

OMIM604285
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121908523(A;A)
Alt rs121908523(A;A)
Reference Rs121908523(G;G)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241808403G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005998.4,