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rs121908322

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908322(C;T)
Make rs121908322(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position9980681
GeneSLC2A9
is asnp
is mentioned by
dbSNPrs121908322
dbSNP (classic)rs121908322
ClinGenrs121908322
ebirs121908322
HLIrs121908322
Exacrs121908322
Gnomadrs121908322
Varsomers121908322
LitVarrs121908322
Maprs121908322
PheGenIrs121908322
Biobankrs121908322
1000 genomesrs121908322
hgdprs121908322
ensemblrs121908322
geneviewrs121908322
scholarrs121908322
googlers121908322
pharmgkbrs121908322
gwascentralrs121908322
openSNPrs121908322
23andMers121908322
SNPshotrs121908322
SNPdbers121908322
MSV3drs121908322
GWAS Ctlgrs121908322
Max Magnitude0
OMIM606142
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121908322(T;T)
Alt rs121908322(T;T)
Reference Rs121908322(C;C)
Significance Pathogenic
Disease Renal hypouricemia 2 Familial renal hypouricemia
Variation info
Gene SLC2A9
CLNDBN Renal hypouricemia 2 Familial renal hypouricemia
Reversed 1
HGVS NC_000004.11:g.9982305G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004860.2, RCV000314356.1,