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rs180177287

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs180177287(C;C)
Make rs180177287(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position240877541
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177287
ebirs180177287
HLIrs180177287
Exacrs180177287
Varsomers180177287
Maprs180177287
PheGenIrs180177287
hapmaprs180177287
1000 genomesrs180177287
hgdprs180177287
ensemblrs180177287
gopubmedrs180177287
geneviewrs180177287
scholarrs180177287
googlers180177287
pharmgkbrs180177287
gwascentralrs180177287
openSNPrs180177287
23andMers180177287
23andMe allrs180177287
SNP Nexus

SNPshotrs180177287
SNPdbers180177287
MSV3drs180177287
GWAS Ctlgrs180177287
Max Magnitude0
ClinVar
Risk rs180177287(C;C)
Alt rs180177287(C;C)
Reference rs180177287(T;T)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241816958T>C
CLNSRC
CLNACC RCV000186339.1,