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rs796052072

From SNPedia

Orientationplus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs796052072(AA;AA)
Make rs796052072(AA;TG)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position240875179
GeneAGXT
is asnp
is mentioned by
dbSNPrs796052072
ebirs796052072
HLIrs796052072
Exacrs796052072
Varsomers796052072
Maprs796052072
PheGenIrs796052072
hapmaprs796052072
1000 genomesrs796052072
hgdprs796052072
ensemblrs796052072
gopubmedrs796052072
geneviewrs796052072
scholarrs796052072
googlers796052072
pharmgkbrs796052072
gwascentralrs796052072
openSNPrs796052072
23andMers796052072
23andMe allrs796052072
SNP Nexus

SNPshotrs796052072
SNPdbers796052072
MSV3drs796052072
GWAS Ctlgrs796052072
Max Magnitude0
ClinVar
Risk rs796052072(AA;AA)
Alt rs796052072(AA;AA)
Reference rs796052072(TG;TG)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241814596_241814597delTGinsAA
CLNSRC
CLNACC RCV000186406.1,