rs28934583

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs28934583(C;C)

Make rs28934583(C;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

20348652

Gene

UMOD

is a	snp
is	mentioned by
dbSNP	rs28934583
dbSNP (classic)	rs28934583
ClinGen	rs28934583
ebi	rs28934583
HLI	rs28934583
Exac	rs28934583
Gnomad	rs28934583
Varsome	rs28934583
LitVar	rs28934583
Map	rs28934583
PheGenI	rs28934583
Biobank	rs28934583
1000 genomes	rs28934583
hgdp	rs28934583
ensembl	rs28934583
geneview	rs28934583
scholar	rs28934583
google	rs28934583
pharmgkb	rs28934583
gwascentral	rs28934583
openSNP	rs28934583
23andMe	rs28934583
SNPshot	rs28934583
SNPdbe	rs28934583
MSV3d	rs28934583
GWAS Ctlg	rs28934583

Max Magnitude

0

OMIM	191845
Desc	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE
Variant	0003
Related	also

ClinVar
Risk	rs28934583(C;C) rs28934583(G;G)
Alt	rs28934583(C;C) rs28934583(G;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 UniProtKB (protein)
CLNACC	RCV000032594.24, RCV000013043.22,