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rs398122322

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs398122322(-;C)
Make rs398122322(C;C)
ReferenceGRCh38 38.1/142
Chromosome2
Position240868898
GeneAGXT
is asnp
is mentioned by
dbSNPrs398122322
dbSNP (classic)rs398122322
ClinGenrs398122322
ebirs398122322
HLIrs398122322
Exacrs398122322
Gnomadrs398122322
Varsomers398122322
LitVarrs398122322
Maprs398122322
PheGenIrs398122322
Biobankrs398122322
1000 genomesrs398122322
hgdprs398122322
ensemblrs398122322
geneviewrs398122322
scholarrs398122322
googlers398122322
pharmgkbrs398122322
gwascentralrs398122322
openSNPrs398122322
23andMers398122322
SNPshotrs398122322
SNPdbers398122322
MSV3drs398122322
GWAS Ctlgrs398122322
Max Magnitude0
ClinVar
Risk rs398122322(C;C)
Alt rs398122322(C;C)
Reference Rs398122322(-;-)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241808315dupC
CLNSRC ClinVar
CLNACC RCV000128800.3,