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

rs121917769

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121917769(C;C)
Make rs121917769(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position20348925
GeneUMOD
is asnp
is mentioned by
dbSNPrs121917769
dbSNP (classic)rs121917769
ClinGenrs121917769
ebirs121917769
HLIrs121917769
Exacrs121917769
Gnomadrs121917769
Varsomers121917769
LitVarrs121917769
Maprs121917769
PheGenIrs121917769
Biobankrs121917769
1000 genomesrs121917769
hgdprs121917769
ensemblrs121917769
geneviewrs121917769
scholarrs121917769
googlers121917769
pharmgkbrs121917769
gwascentralrs121917769
openSNPrs121917769
23andMers121917769
SNPshotrs121917769
SNPdbers121917769
MSV3drs121917769
GWAS Ctlgrs121917769
Max Magnitude0
OMIM191845
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121917769(C;C)
Alt rs121917769(C;C)
Reference Rs121917769(T;T)
Significance Pathogenic
Disease Familial juvenile gout
Variation info
Gene UMOD
CLNDBN Familial juvenile gout
Reversed 1
HGVS NC_000016.9:g.20360247A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013046.22,