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rs121917772

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121917772(G;G)
Make rs121917772(G;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position20348298
GeneUMOD
is asnp
is mentioned by
dbSNPrs121917772
dbSNP (classic)rs121917772
ClinGenrs121917772
ebirs121917772
HLIrs121917772
Exacrs121917772
Gnomadrs121917772
Varsomers121917772
LitVarrs121917772
Maprs121917772
PheGenIrs121917772
Biobankrs121917772
1000 genomesrs121917772
hgdprs121917772
ensemblrs121917772
geneviewrs121917772
scholarrs121917772
googlers121917772
pharmgkbrs121917772
gwascentralrs121917772
openSNPrs121917772
23andMers121917772
SNPshotrs121917772
SNPdbers121917772
MSV3drs121917772
GWAS Ctlgrs121917772
Max Magnitude0
OMIM191845
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121917772(G;G)
Alt rs121917772(G;G)
Reference Rs121917772(T;T)
Significance Pathogenic
Disease Familial juvenile gout
Variation info
Gene UMOD
CLNDBN Familial juvenile gout
Reversed 1
HGVS NC_000016.9:g.20359620A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013049.23,