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rs180177272

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs180177272(A;C)
Make rs180177272(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position240875981
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177272
dbSNP (classic)rs180177272
ClinGenrs180177272
ebirs180177272
HLIrs180177272
Exacrs180177272
Gnomadrs180177272
Varsomers180177272
LitVarrs180177272
Maprs180177272
PheGenIrs180177272
Biobankrs180177272
1000 genomesrs180177272
hgdprs180177272
ensemblrs180177272
geneviewrs180177272
scholarrs180177272
googlers180177272
pharmgkbrs180177272
gwascentralrs180177272
openSNPrs180177272
23andMers180177272
SNPshotrs180177272
SNPdbers180177272
MSV3drs180177272
GWAS Ctlgrs180177272
Max Magnitude0
ClinVar
Risk rs180177272(C;C)
Alt rs180177272(C;C)
Reference Rs180177272(A;A)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241815398A>C
CLNSRC
CLNACC RCV000186336.1,