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rs180177278

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs180177278(-;-)
Make rs180177278(-;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position240868948
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177278
dbSNP (classic)rs180177278
ClinGenrs180177278
ebirs180177278
HLIrs180177278
Exacrs180177278
Gnomadrs180177278
Varsomers180177278
LitVarrs180177278
Maprs180177278
PheGenIrs180177278
Biobankrs180177278
1000 genomesrs180177278
hgdprs180177278
ensemblrs180177278
geneviewrs180177278
scholarrs180177278
googlers180177278
pharmgkbrs180177278
gwascentralrs180177278
openSNPrs180177278
23andMers180177278
SNPshotrs180177278
SNPdbers180177278
MSV3drs180177278
GWAS Ctlgrs180177278
Max Magnitude0
ClinVar
Risk rs180177278(-;-)
Alt rs180177278(-;-)
Reference Rs180177278(C;C)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241808365delC
CLNSRC
CLNACC RCV000186381.1,