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rs796052075

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CG;CG) 0 common in clinvar
Make rs796052075(-;-)
Make rs796052075(-;CG)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position240878752
GeneAGXT
is asnp
is mentioned by
dbSNPrs796052075
dbSNP (classic)rs796052075
ClinGenrs796052075
ebirs796052075
HLIrs796052075
Exacrs796052075
Gnomadrs796052075
Varsomers796052075
LitVarrs796052075
Maprs796052075
PheGenIrs796052075
Biobankrs796052075
1000 genomesrs796052075
hgdprs796052075
ensemblrs796052075
geneviewrs796052075
scholarrs796052075
googlers796052075
pharmgkbrs796052075
gwascentralrs796052075
openSNPrs796052075
23andMers796052075
SNPshotrs796052075
SNPdbers796052075
MSV3drs796052075
GWAS Ctlgrs796052075
Max Magnitude0
ClinVar
Risk rs796052075(-;-)
Alt rs796052075(-;-)
Reference Rs796052075(CG;CG)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241818169_241818170delCG
CLNSRC
CLNACC RCV000186418.1,