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rs180177172

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs180177172(C;T)
Make rs180177172(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position240868995
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177172
dbSNP (classic)rs180177172
ClinGenrs180177172
ebirs180177172
HLIrs180177172
Exacrs180177172
Gnomadrs180177172
Varsomers180177172
LitVarrs180177172
Maprs180177172
PheGenIrs180177172
Biobankrs180177172
1000 genomesrs180177172
hgdprs180177172
ensemblrs180177172
geneviewrs180177172
scholarrs180177172
googlers180177172
pharmgkbrs180177172
gwascentralrs180177172
openSNPrs180177172
23andMers180177172
SNPshotrs180177172
SNPdbers180177172
MSV3drs180177172
GWAS Ctlgrs180177172
Max Magnitude0
ClinVar
Risk rs180177172(T;T)
Alt rs180177172(T;T)
Reference Rs180177172(C;C)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241808412C>T
CLNSRC
CLNACC RCV000186281.1,