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rs180177289

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GC;GC) 0 common in clinvar
Make rs180177289(CG;CG)
Make rs180177289(CG;GC)
ReferenceGRCh38 38.1/141
Chromosome2
Position240877550
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177289
ebirs180177289
HLIrs180177289
Exacrs180177289
Varsomers180177289
Maprs180177289
PheGenIrs180177289
hapmaprs180177289
1000 genomesrs180177289
hgdprs180177289
ensemblrs180177289
gopubmedrs180177289
geneviewrs180177289
scholarrs180177289
googlers180177289
pharmgkbrs180177289
gwascentralrs180177289
openSNPrs180177289
23andMers180177289
23andMe allrs180177289
SNP Nexus

SNPshotrs180177289
SNPdbers180177289
MSV3drs180177289
GWAS Ctlgrs180177289
Max Magnitude0
ClinVar
Risk rs180177289(CG;CG)
Alt rs180177289(CG;CG)
Reference rs180177289(GC;GC)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241816967_241816968delGCinsCG
CLNSRC
CLNACC RCV000186412.1,