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rs28934582

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(G;G) 0 common in clinvar
Make rs28934582(A;A)
Make rs28934582(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position20348858
GeneUMOD
is asnp
is mentioned by
dbSNPrs28934582
dbSNP (classic)rs28934582
ClinGenrs28934582
ebirs28934582
HLIrs28934582
Exacrs28934582
Gnomadrs28934582
Varsomers28934582
LitVarrs28934582
Maprs28934582
PheGenIrs28934582
Biobankrs28934582
1000 genomesrs28934582
hgdprs28934582
ensemblrs28934582
geneviewrs28934582
scholarrs28934582
googlers28934582
pharmgkbrs28934582
gwascentralrs28934582
openSNPrs28934582
23andMers28934582
SNPshotrs28934582
SNPdbers28934582
MSV3drs28934582
GWAS Ctlgrs28934582
Max Magnitude0
OMIM191845
DescHYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE
Variant0002
Relatedalso



ClinVar
Risk rs28934582(A;A)
Alt rs28934582(A;A)
Reference Rs28934582(G;G)
Significance Pathogenic
Disease Familial juvenile gout
Variation info
Gene UMOD
CLNDBN Familial juvenile gout
Reversed 1
HGVS NC_000016.9:g.20360180C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013042.22,