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rs180177210

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs180177210(C;T)
Make rs180177210(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position240870649
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177210
dbSNP (classic)rs180177210
ClinGenrs180177210
ebirs180177210
HLIrs180177210
Exacrs180177210
Gnomadrs180177210
Varsomers180177210
LitVarrs180177210
Maprs180177210
PheGenIrs180177210
Biobankrs180177210
1000 genomesrs180177210
hgdprs180177210
ensemblrs180177210
geneviewrs180177210
scholarrs180177210
googlers180177210
pharmgkbrs180177210
gwascentralrs180177210
openSNPrs180177210
23andMers180177210
SNPshotrs180177210
SNPdbers180177210
MSV3drs180177210
GWAS Ctlgrs180177210
Max Magnitude0
ClinVar
Risk rs180177210(T;T)
Alt rs180177210(T;T)
Reference Rs180177210(C;C)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241810066C>T
CLNSRC
CLNACC RCV000186303.1,