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rs180177163

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs180177163(A;A)
Make rs180177163(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position240878744
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177163
dbSNP (classic)rs180177163
ClinGenrs180177163
ebirs180177163
HLIrs180177163
Exacrs180177163
Gnomadrs180177163
Varsomers180177163
LitVarrs180177163
Maprs180177163
PheGenIrs180177163
Biobankrs180177163
1000 genomesrs180177163
hgdprs180177163
ensemblrs180177163
geneviewrs180177163
scholarrs180177163
googlers180177163
pharmgkbrs180177163
gwascentralrs180177163
openSNPrs180177163
23andMers180177163
SNPshotrs180177163
SNPdbers180177163
MSV3drs180177163
GWAS Ctlgrs180177163
Max Magnitude0
ClinVar
Risk rs180177163(A;A)
Alt rs180177163(A;A)
Reference Rs180177163(G;G)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241818161G>A
CLNSRC
CLNACC RCV000186355.1,