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rs796052061

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs796052061(A;A)
Make rs796052061(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position240869339
GeneAGXT
is asnp
is mentioned by
dbSNPrs796052061
dbSNP (classic)rs796052061
ClinGenrs796052061
ebirs796052061
HLIrs796052061
Exacrs796052061
Gnomadrs796052061
Varsomers796052061
LitVarrs796052061
Maprs796052061
PheGenIrs796052061
Biobankrs796052061
1000 genomesrs796052061
hgdprs796052061
ensemblrs796052061
geneviewrs796052061
scholarrs796052061
googlers796052061
pharmgkbrs796052061
gwascentralrs796052061
openSNPrs796052061
23andMers796052061
SNPshotrs796052061
SNPdbers796052061
MSV3drs796052061
GWAS Ctlgrs796052061
Max Magnitude0
ClinVar
Risk rs796052061(A;A)
Alt rs796052061(A;A)
Reference Rs796052061(C;C)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241808756C>A
CLNSRC UniProtKB (protein)
CLNACC RCV000186299.1,