rs28934583
From SNPedia
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 |
rs28934583 | |
pharmgkb | rs28934583 |
gwascentral | rs28934583 |
openSNP | rs28934583 |
23andMe | rs28934583 |
SNPshot | rs28934583 |
SNPdbe | rs28934583 |
MSV3d | rs28934583 |
GWAS Ctlg | rs28934583 |
Max Magnitude | 0 |
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, |