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rs180177214

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs180177214(C;T)
Make rs180177214(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position240870694
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177214
dbSNP (classic)rs180177214
ClinGenrs180177214
ebirs180177214
HLIrs180177214
Exacrs180177214
Gnomadrs180177214
Varsomers180177214
LitVarrs180177214
Maprs180177214
PheGenIrs180177214
Biobankrs180177214
1000 genomesrs180177214
hgdprs180177214
ensemblrs180177214
geneviewrs180177214
scholarrs180177214
googlers180177214
pharmgkbrs180177214
gwascentralrs180177214
openSNPrs180177214
23andMers180177214
SNPshotrs180177214
SNPdbers180177214
MSV3drs180177214
GWAS Ctlgrs180177214
Max Magnitude0
ClinVar
Risk rs180177214(T;T)
Alt rs180177214(T;T)
Reference Rs180177214(C;C)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241810111C>T
CLNSRC
CLNACC RCV000186305.1,