rs28934584
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | |
(G;G) | 0 | common in clinvar |
Make rs28934584(G;T) |
Make rs28934584(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 20348994 |
Gene | UMOD |
is a | snp |
is | mentioned by |
dbSNP | rs28934584 |
dbSNP (classic) | rs28934584 |
ClinGen | rs28934584 |
ebi | rs28934584 |
HLI | rs28934584 |
Exac | rs28934584 |
Gnomad | rs28934584 |
Varsome | rs28934584 |
LitVar | rs28934584 |
Map | rs28934584 |
PheGenI | rs28934584 |
Biobank | rs28934584 |
1000 genomes | rs28934584 |
hgdp | rs28934584 |
ensembl | rs28934584 |
geneview | rs28934584 |
scholar | rs28934584 |
rs28934584 | |
pharmgkb | rs28934584 |
gwascentral | rs28934584 |
openSNP | rs28934584 |
23andMe | rs28934584 |
SNPshot | rs28934584 |
SNPdbe | rs28934584 |
MSV3d | rs28934584 |
GWAS Ctlg | rs28934584 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28934584(A;A) rs28934584(T;T) |
Alt | rs28934584(A;A) rs28934584(T;T) |
Reference | Rs28934584(G;G) |
Significance | Pathogenic |
Disease | Medullary cystic kidney disease 2 |
Variation | info |
Gene | UMOD |
CLNDBN | Medullary cystic kidney disease 2 |
Reversed | 1 |
HGVS | NC_000016.9:g.20360316C>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000013044.16, |