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rs180177160

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs180177160(C;C)
Make rs180177160(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position240878718
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177160
dbSNP (classic)rs180177160
ClinGenrs180177160
ebirs180177160
HLIrs180177160
Exacrs180177160
Gnomadrs180177160
Varsomers180177160
LitVarrs180177160
Maprs180177160
PheGenIrs180177160
Biobankrs180177160
1000 genomesrs180177160
hgdprs180177160
ensemblrs180177160
geneviewrs180177160
scholarrs180177160
googlers180177160
pharmgkbrs180177160
gwascentralrs180177160
openSNPrs180177160
23andMers180177160
SNPshotrs180177160
SNPdbers180177160
MSV3drs180177160
GWAS Ctlgrs180177160
Max Magnitude0
ClinVar
Risk rs180177160(C;C)
Alt rs180177160(C;C)
Reference Rs180177160(T;T)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241818135T>C
CLNSRC
CLNACC RCV000186353.1,