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rs180177182

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs180177182(C;T)
Make rs180177182(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position240869209
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177182
dbSNP (classic)rs180177182
ClinGenrs180177182
ebirs180177182
HLIrs180177182
Exacrs180177182
Gnomadrs180177182
Varsomers180177182
LitVarrs180177182
Maprs180177182
PheGenIrs180177182
Biobankrs180177182
1000 genomesrs180177182
hgdprs180177182
ensemblrs180177182
geneviewrs180177182
scholarrs180177182
googlers180177182
pharmgkbrs180177182
gwascentralrs180177182
openSNPrs180177182
23andMers180177182
SNPshotrs180177182
SNPdbers180177182
MSV3drs180177182
GWAS Ctlgrs180177182
Max Magnitude0
ClinVar
Risk rs180177182(T;T)
Alt rs180177182(T;T)
Reference Rs180177182(C;C)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241808626C>T
CLNSRC
CLNACC RCV000186286.1,