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rs180177222

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs180177222(C;C)
Make rs180177222(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position240871374
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177222
dbSNP (classic)rs180177222
ClinGenrs180177222
ebirs180177222
HLIrs180177222
Exacrs180177222
Gnomadrs180177222
Varsomers180177222
LitVarrs180177222
Maprs180177222
PheGenIrs180177222
Biobankrs180177222
1000 genomesrs180177222
hgdprs180177222
ensemblrs180177222
geneviewrs180177222
scholarrs180177222
googlers180177222
pharmgkbrs180177222
gwascentralrs180177222
openSNPrs180177222
23andMers180177222
SNPshotrs180177222
SNPdbers180177222
MSV3drs180177222
GWAS Ctlgrs180177222
Max Magnitude0
ClinVar
Risk rs180177222(C;C)
Alt rs180177222(C;C)
Reference Rs180177222(T;T)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241810791T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000186307.1,