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rs180177291

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GCG;GCG) 0 common in clinvar
Make rs180177291(-;-)
Make rs180177291(-;GCG)
ReferenceGRCh38 38.1/141
Chromosome2
Position240877576
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177291
dbSNP (classic)rs180177291
ClinGenrs180177291
ebirs180177291
HLIrs180177291
Exacrs180177291
Gnomadrs180177291
Varsomers180177291
LitVarrs180177291
Maprs180177291
PheGenIrs180177291
Biobankrs180177291
1000 genomesrs180177291
hgdprs180177291
ensemblrs180177291
geneviewrs180177291
scholarrs180177291
googlers180177291
pharmgkbrs180177291
gwascentralrs180177291
openSNPrs180177291
23andMers180177291
SNPshotrs180177291
SNPdbers180177291
MSV3drs180177291
GWAS Ctlgrs180177291
Max Magnitude0
ClinVar
Risk rs180177291(-;-)
Alt rs180177291(-;-)
Reference Rs180177291(GCG;GCG)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241816993_241816995delGCG
CLNSRC
CLNACC RCV000186413.1,