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

rs28934583

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs28934583(C;C)
Make rs28934583(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position20348652
GeneUMOD
is asnp
is mentioned by
dbSNPrs28934583
ebirs28934583
HLIrs28934583
Exacrs28934583
Varsomers28934583
Maprs28934583
PheGenIrs28934583
hapmaprs28934583
1000 genomesrs28934583
hgdprs28934583
ensemblrs28934583
gopubmedrs28934583
geneviewrs28934583
scholarrs28934583
googlers28934583
pharmgkbrs28934583
gwascentralrs28934583
openSNPrs28934583
23andMers28934583
23andMe allrs28934583
SNP Nexus

SNPshotrs28934583
SNPdbers28934583
MSV3drs28934583
GWAS Ctlgrs28934583
Max Magnitude0
OMIM191845
DescHYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE
Variant0003
Relatedalso
Neighborrs28934582
Distance206


ClinVar
Risk rs28934583(C,G;C,G)
Alt rs28934583(C,G;C,G)
Reference rs28934583(T;T)
Significance Pathogenic
Disease Familial juvenile gout
Variation info
Gene UMOD
CLNDBN Familial juvenile gout
Reversed 1
HGVS NC_000016.9:g.20359974A>C; NC_000016.9:g.20359974A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000032594.24, RCV000013043.22,