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rs180177247

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs180177247(A;A)
Make rs180177247(A;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position240873994
GeneAGXT
is asnp
is mentioned by
dbSNPrs180177247
ebirs180177247
HLIrs180177247
Exacrs180177247
Varsomers180177247
Maprs180177247
PheGenIrs180177247
hapmaprs180177247
1000 genomesrs180177247
hgdprs180177247
ensemblrs180177247
gopubmedrs180177247
geneviewrs180177247
scholarrs180177247
googlers180177247
pharmgkbrs180177247
gwascentralrs180177247
openSNPrs180177247
23andMers180177247
23andMe allrs180177247
SNP Nexus

SNPshotrs180177247
SNPdbers180177247
MSV3drs180177247
GWAS Ctlgrs180177247
Max Magnitude0
ClinVar
Risk rs180177247(A;A)
Alt rs180177247(A;A)
Reference rs180177247(C;C)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241813411C>A
CLNSRC
CLNACC RCV000186323.1,