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rs121908520

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908520(C;C)
Make rs121908520(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position240873995
GeneAGXT
is asnp
is mentioned by
dbSNPrs121908520
ebirs121908520
HLIrs121908520
Exacrs121908520
Varsomers121908520
Maprs121908520
PheGenIrs121908520
hapmaprs121908520
1000 genomesrs121908520
hgdprs121908520
ensemblrs121908520
gopubmedrs121908520
geneviewrs121908520
scholarrs121908520
googlers121908520
pharmgkbrs121908520
gwascentralrs121908520
openSNPrs121908520
23andMers121908520
23andMe allrs121908520
SNP Nexus

SNPshotrs121908520
SNPdbers121908520
MSV3drs121908520
GWAS Ctlgrs121908520
Max Magnitude0
OMIM604285
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121908520(C;C)
Alt rs121908520(C;C)
Reference rs121908520(T;T)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241813412T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000005994.4,