rs45487298
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common/normal |
Make rs45487298(-;G) |
Make rs45487298(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 209706873 |
Gene | HSD11B1, LOC101930114 |
is a | snp |
is | mentioned by |
dbSNP | rs45487298 |
dbSNP (classic) | rs45487298 |
ClinGen | rs45487298 |
ebi | rs45487298 |
HLI | rs45487298 |
Exac | rs45487298 |
Gnomad | rs45487298 |
Varsome | rs45487298 |
LitVar | rs45487298 |
Map | rs45487298 |
PheGenI | rs45487298 |
Biobank | rs45487298 |
1000 genomes | rs45487298 |
hgdp | rs45487298 |
ensembl | rs45487298 |
geneview | rs45487298 |
scholar | rs45487298 |
rs45487298 | |
pharmgkb | rs45487298 |
gwascentral | rs45487298 |
openSNP | rs45487298 |
23andMe | rs45487298 |
SNPshot | rs45487298 |
SNPdbe | rs45487298 |
MSV3d | rs45487298 |
GWAS Ctlg | rs45487298 |
Max Magnitude | 0 |
[PMID 21117953] Optimization of High-Resolution Melting Analysis for Simultaneous Genotyping of Two 11?-Hydroxysteroid Dehydrogenase Type 1 Gene Polymorphisms
ClinVar | |
---|---|
Risk | Rs45487298(A;A) rs45487298(G;G) |
Alt | Rs45487298(A;A) rs45487298(G;G) |
Reference | Rs45487298(-;-) |
Significance | Unknown |
Disease | Cortisone reductase deficiency 2 |
Variation | info |
Gene | LOC101930114 HSD11B1 |
CLNDBN | Cortisone reductase deficiency 2 |
Reversed | 0 |
HGVS | NC_000001.10:g.209880218dupA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009466.2, |
[PMID 26671915] Association between ins4436A in 11β-hydroxysteroid dehydrogenase type 1 gene and essential hypertension in Polish population.