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rs4426527

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs4426527(A;G)
Make rs4426527(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position240878099
GeneAGXT
is asnp
is mentioned by
dbSNPrs4426527
dbSNP (classic)rs4426527
ClinGenrs4426527
ebirs4426527
HLIrs4426527
Exacrs4426527
Gnomadrs4426527
Varsomers4426527
LitVarrs4426527
Maprs4426527
PheGenIrs4426527
Biobankrs4426527
1000 genomesrs4426527
hgdprs4426527
ensemblrs4426527
geneviewrs4426527
scholarrs4426527
googlers4426527
pharmgkbrs4426527
gwascentralrs4426527
openSNPrs4426527
23andMers4426527
SNPshotrs4426527
SNPdbers4426527
MSV3drs4426527
GWAS Ctlgrs4426527
GMAF0.1368
Max Magnitude0
? (A;A) (A;G) (G;G) 28


ClinVar
Risk rs4426527(G;G)
Alt rs4426527(G;G)
Reference Rs4426527(A;A)
Significance Other
Disease Primary hyperoxaluria not specified Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I not specified Primary hyperoxaluria
Reversed 0
HGVS NC_000002.11:g.241817516A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000032682.7, RCV000247828.2, RCV000389779.1,