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rs180177293

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs180177293(C;C)
Make rs180177293(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position240877583
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177293
ebirs180177293
HLIrs180177293
Exacrs180177293
Varsomers180177293
Maprs180177293
PheGenIrs180177293
hapmaprs180177293
1000 genomesrs180177293
hgdprs180177293
ensemblrs180177293
gopubmedrs180177293
geneviewrs180177293
scholarrs180177293
googlers180177293
pharmgkbrs180177293
gwascentralrs180177293
openSNPrs180177293
23andMers180177293
23andMe allrs180177293
SNP Nexus

SNPshotrs180177293
SNPdbers180177293
MSV3drs180177293
GWAS Ctlgrs180177293
Max Magnitude0
ClinVar
Risk rs180177293(C;C)
Alt rs180177293(C;C)
Reference rs180177293(T;T)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241817000T>C
CLNSRC
CLNACC RCV000186343.1,