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rs180177281

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs180177281(A;A)
Make rs180177281(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position240876005
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177281
ebirs180177281
HLIrs180177281
Exacrs180177281
Varsomers180177281
Maprs180177281
PheGenIrs180177281
hapmaprs180177281
1000 genomesrs180177281
hgdprs180177281
ensemblrs180177281
gopubmedrs180177281
geneviewrs180177281
scholarrs180177281
googlers180177281
pharmgkbrs180177281
gwascentralrs180177281
openSNPrs180177281
23andMers180177281
23andMe allrs180177281
SNP Nexus

SNPshotrs180177281
SNPdbers180177281
MSV3drs180177281
GWAS Ctlgrs180177281
Merged fromRs180177282
Max Magnitude0
ClinVar
Risk rs180177281(A,T;A,T)
Alt rs180177281(A,T;A,T)
Reference rs180177281(G;G)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241815422G>A; NC_000002.11:g.241815422G>T
CLNSRC
CLNACC RCV000186367.1, RCV000186366.1,