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rs796052063

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs796052063(C;C)
Make rs796052063(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position240878026
GeneAGXT
is asnp
is mentioned by
dbSNPrs796052063
dbSNP (classic)rs796052063
ClinGenrs796052063
ebirs796052063
HLIrs796052063
Exacrs796052063
Gnomadrs796052063
Varsomers796052063
LitVarrs796052063
Maprs796052063
PheGenIrs796052063
Biobankrs796052063
1000 genomesrs796052063
hgdprs796052063
ensemblrs796052063
geneviewrs796052063
scholarrs796052063
googlers796052063
pharmgkbrs796052063
gwascentralrs796052063
openSNPrs796052063
23andMers796052063
SNPshotrs796052063
SNPdbers796052063
MSV3drs796052063
GWAS Ctlgrs796052063
Max Magnitude0
ClinVar
Risk rs796052063(C;C)
Alt rs796052063(C;C)
Reference Rs796052063(T;T)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241817443T>C
CLNSRC
CLNACC RCV000186346.1,