rs28934582
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | |
(G;G) | 0 | common in clinvar |
Make rs28934582(A;A) |
Make rs28934582(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 20348858 |
Gene | UMOD |
is a | snp |
is | mentioned by |
dbSNP | rs28934582 |
dbSNP (classic) | rs28934582 |
ClinGen | rs28934582 |
ebi | rs28934582 |
HLI | rs28934582 |
Exac | rs28934582 |
Gnomad | rs28934582 |
Varsome | rs28934582 |
LitVar | rs28934582 |
Map | rs28934582 |
PheGenI | rs28934582 |
Biobank | rs28934582 |
1000 genomes | rs28934582 |
hgdp | rs28934582 |
ensembl | rs28934582 |
geneview | rs28934582 |
scholar | rs28934582 |
rs28934582 | |
pharmgkb | rs28934582 |
gwascentral | rs28934582 |
openSNP | rs28934582 |
23andMe | rs28934582 |
SNPshot | rs28934582 |
SNPdbe | rs28934582 |
MSV3d | rs28934582 |
GWAS Ctlg | rs28934582 |
Max Magnitude | 0 |
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, |