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rs180177288

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs180177288(G;T)
Make rs180177288(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position240877543
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177288
ebirs180177288
HLIrs180177288
Exacrs180177288
Varsomers180177288
Maprs180177288
PheGenIrs180177288
hapmaprs180177288
1000 genomesrs180177288
hgdprs180177288
ensemblrs180177288
gopubmedrs180177288
geneviewrs180177288
scholarrs180177288
googlers180177288
pharmgkbrs180177288
gwascentralrs180177288
openSNPrs180177288
23andMers180177288
23andMe allrs180177288
SNP Nexus

SNPshotrs180177288
SNPdbers180177288
MSV3drs180177288
GWAS Ctlgrs180177288
Max Magnitude0
ClinVar
Risk rs180177288(T;T)
Alt rs180177288(T;T)
Reference rs180177288(G;G)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241816960G>T
CLNSRC
CLNACC RCV000186340.1,