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rs180177284

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs180177284(C;C)
Make rs180177284(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position240876004
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177284
dbSNP (classic)rs180177284
ClinGenrs180177284
ebirs180177284
HLIrs180177284
Exacrs180177284
Gnomadrs180177284
Varsomers180177284
LitVarrs180177284
Maprs180177284
PheGenIrs180177284
Biobankrs180177284
1000 genomesrs180177284
hgdprs180177284
ensemblrs180177284
geneviewrs180177284
scholarrs180177284
googlers180177284
pharmgkbrs180177284
gwascentralrs180177284
openSNPrs180177284
23andMers180177284
SNPshotrs180177284
SNPdbers180177284
MSV3drs180177284
GWAS Ctlgrs180177284
Max Magnitude0
ClinVar
Risk rs180177284(C;C)
Alt rs180177284(C;C)
Reference Rs180177284(G;G)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241815421G>C
CLNSRC
CLNACC RCV000186338.1,