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rs121917770

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121917770(A;G)
Make rs121917770(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position20348918
GeneUMOD
is asnp
is mentioned by
dbSNPrs121917770
dbSNP (classic)rs121917770
ClinGenrs121917770
ebirs121917770
HLIrs121917770
Exacrs121917770
Gnomadrs121917770
Varsomers121917770
LitVarrs121917770
Maprs121917770
PheGenIrs121917770
Biobankrs121917770
1000 genomesrs121917770
hgdprs121917770
ensemblrs121917770
geneviewrs121917770
scholarrs121917770
googlers121917770
pharmgkbrs121917770
gwascentralrs121917770
openSNPrs121917770
23andMers121917770
SNPshotrs121917770
SNPdbers121917770
MSV3drs121917770
GWAS Ctlgrs121917770
Max Magnitude0
OMIM191845
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121917770(G;G)
Alt rs121917770(G;G)
Reference Rs121917770(A;A)
Significance Pathogenic
Disease Familial juvenile gout
Variation info
Gene UMOD
CLNDBN Familial juvenile gout
Reversed 1
HGVS NC_000016.9:g.20360240T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013047.22,