Have questions? Visit https://www.reddit.com/r/SNPedia

rs121908521

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908521(C;G)
Make rs121908521(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position240869202
GeneAGXT
is asnp
is mentioned by
dbSNPrs121908521
dbSNP (classic)rs121908521
ClinGenrs121908521
ebirs121908521
HLIrs121908521
Exacrs121908521
Gnomadrs121908521
Varsomers121908521
LitVarrs121908521
Maprs121908521
PheGenIrs121908521
Biobankrs121908521
1000 genomesrs121908521
hgdprs121908521
ensemblrs121908521
geneviewrs121908521
scholarrs121908521
googlers121908521
pharmgkbrs121908521
gwascentralrs121908521
openSNPrs121908521
23andMers121908521
SNPshotrs121908521
SNPdbers121908521
MSV3drs121908521
GWAS Ctlgrs121908521
Max Magnitude0
OMIM604285
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121908521(G;G) rs121908521(T;T)
Alt rs121908521(G;G) rs121908521(T;T)
Reference Rs121908521(C;C)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene AGXT
CLNDBN Primary hyperoxaluria, type I
Reversed 0
HGVS NC_000002.11:g.241808619C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000005996.2,