rs28730837
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs28730837(C;T) |
Make rs28730837(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 58278036 |
Gene | MPO |
is a | snp |
is | mentioned by |
dbSNP | rs28730837 |
dbSNP (classic) | rs28730837 |
ClinGen | rs28730837 |
ebi | rs28730837 |
HLI | rs28730837 |
Exac | rs28730837 |
Gnomad | rs28730837 |
Varsome | rs28730837 |
LitVar | rs28730837 |
Map | rs28730837 |
PheGenI | rs28730837 |
Biobank | rs28730837 |
1000 genomes | rs28730837 |
hgdp | rs28730837 |
ensembl | rs28730837 |
geneview | rs28730837 |
scholar | rs28730837 |
rs28730837 | |
pharmgkb | rs28730837 |
gwascentral | rs28730837 |
openSNP | rs28730837 |
23andMe | rs28730837 |
SNPshot | rs28730837 |
SNPdbe | rs28730837 |
MSV3d | rs28730837 |
GWAS Ctlg | rs28730837 |
GMAF | 0.007805 |
Max Magnitude | 0 |
[PMID 20031590] The Relation of Genetic and Environmental Factors to Systemic Inflammatory Biomarker Concentrations
ClinVar | |
---|---|
Risk | rs28730837(T;T) |
Alt | rs28730837(T;T) |
Reference | Rs28730837(C;C) |
Significance | Pathogenic |
Disease | Myeloperoxidase deficiency |
Variation | info |
Gene | MPO |
CLNDBN | Myeloperoxidase deficiency |
Reversed | 1 |
HGVS | NC_000017.10:g.56355397G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003814.3, |
[PMID 23620142] Genome-wide and Gene-Centric Analyses of Circulating Myeloperoxidase Levels in the CHARGE and CARe Consortia