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rs180177213

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs180177213(G;T)
Make rs180177213(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position240868868
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177213
dbSNP (classic)rs180177213
ClinGenrs180177213
ebirs180177213
HLIrs180177213
Exacrs180177213
Gnomadrs180177213
Varsomers180177213
LitVarrs180177213
Maprs180177213
PheGenIrs180177213
Biobankrs180177213
1000 genomesrs180177213
hgdprs180177213
ensemblrs180177213
geneviewrs180177213
scholarrs180177213
googlers180177213
pharmgkbrs180177213
gwascentralrs180177213
openSNPrs180177213
23andMers180177213
SNPshotrs180177213
SNPdbers180177213
MSV3drs180177213
GWAS Ctlgrs180177213
Max Magnitude0
ClinVar
Risk rs180177213(T;T)
Alt rs180177213(T;T)
Reference Rs180177213(G;G)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241808285G>T
CLNSRC
CLNACC RCV000186272.1,