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rs796052060

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs796052060(G;T)
Make rs796052060(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position240869328
GeneAGXT
is asnp
is mentioned by
dbSNPrs796052060
dbSNP (classic)rs796052060
ClinGenrs796052060
ebirs796052060
HLIrs796052060
Exacrs796052060
Gnomadrs796052060
Varsomers796052060
LitVarrs796052060
Maprs796052060
PheGenIrs796052060
Biobankrs796052060
1000 genomesrs796052060
hgdprs796052060
ensemblrs796052060
geneviewrs796052060
scholarrs796052060
googlers796052060
pharmgkbrs796052060
gwascentralrs796052060
openSNPrs796052060
23andMers796052060
SNPshotrs796052060
SNPdbers796052060
MSV3drs796052060
GWAS Ctlgrs796052060
Max Magnitude0
ClinVar
Risk rs796052060(T;T)
Alt rs796052060(T;T)
Reference Rs796052060(G;G)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241808745G>T
CLNSRC
CLNACC RCV000186295.1,