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rs180177290

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs180177290(C;T)
Make rs180177290(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position240877555
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177290
dbSNP (classic)rs180177290
ClinGenrs180177290
ebirs180177290
HLIrs180177290
Exacrs180177290
Gnomadrs180177290
Varsomers180177290
LitVarrs180177290
Maprs180177290
PheGenIrs180177290
Biobankrs180177290
1000 genomesrs180177290
hgdprs180177290
ensemblrs180177290
geneviewrs180177290
scholarrs180177290
googlers180177290
pharmgkbrs180177290
gwascentralrs180177290
openSNPrs180177290
23andMers180177290
SNPshotrs180177290
SNPdbers180177290
MSV3drs180177290
GWAS Ctlgrs180177290
Max Magnitude0
ClinVar
Risk rs180177290(T;T)
Alt rs180177290(T;T)
Reference Rs180177290(C;C)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241816972C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000186261.1,