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rs180177300

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs180177300(-;-)
Make rs180177300(-;TG)
ReferenceGRCh38 38.1/141
Chromosome2
Position240878050
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177300
dbSNP (classic)rs180177300
ClinGenrs180177300
ebirs180177300
HLIrs180177300
Exacrs180177300
Gnomadrs180177300
Varsomers180177300
LitVarrs180177300
Maprs180177300
PheGenIrs180177300
Biobankrs180177300
1000 genomesrs180177300
hgdprs180177300
ensemblrs180177300
geneviewrs180177300
scholarrs180177300
googlers180177300
pharmgkbrs180177300
gwascentralrs180177300
openSNPrs180177300
23andMers180177300
SNPshotrs180177300
SNPdbers180177300
MSV3drs180177300
GWAS Ctlgrs180177300
Max Magnitude0
ClinVar
Risk rs180177300(-;-)
Alt rs180177300(-;-)
Reference Rs180177300(TG;TG)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241817467_241817468delTG
CLNSRC
CLNACC RCV000186416.1,