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rs536352238

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs536352238(C;C)
Make rs536352238(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position240873987
GeneAGXT
is asnp
is mentioned by
dbSNPrs536352238
dbSNP (classic)rs536352238
ClinGenrs536352238
ebirs536352238
HLIrs536352238
Exacrs536352238
Gnomadrs536352238
Varsomers536352238
LitVarrs536352238
Maprs536352238
PheGenIrs536352238
Biobankrs536352238
1000 genomesrs536352238
hgdprs536352238
ensemblrs536352238
geneviewrs536352238
scholarrs536352238
googlers536352238
pharmgkbrs536352238
gwascentralrs536352238
openSNPrs536352238
23andMers536352238
SNPshotrs536352238
SNPdbers536352238
MSV3drs536352238
GWAS Ctlgrs536352238
Max Magnitude0
ClinVar
Risk rs536352238(A;A) rs536352238(C;C)
Alt rs536352238(A;A) rs536352238(C;C)
Reference Rs536352238(T;T)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241813404T>A
CLNSRC UniProtKB (protein)
CLNACC RCV000186322.1,