rs4536
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs4536(A;A) |
Make rs4536(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 142914345 |
Gene | CYP11B2 |
is a | snp |
is | mentioned by |
dbSNP | rs4536 |
dbSNP (classic) | rs4536 |
ClinGen | rs4536 |
ebi | rs4536 |
HLI | rs4536 |
Exac | rs4536 |
Gnomad | rs4536 |
Varsome | rs4536 |
LitVar | rs4536 |
Map | rs4536 |
PheGenI | rs4536 |
Biobank | rs4536 |
1000 genomes | rs4536 |
hgdp | rs4536 |
ensembl | rs4536 |
geneview | rs4536 |
scholar | rs4536 |
rs4536 | |
pharmgkb | rs4536 |
gwascentral | rs4536 |
openSNP | rs4536 |
23andMe | rs4536 |
SNPshot | rs4536 |
SNPdbe | rs4536 |
MSV3d | rs4536 |
GWAS Ctlg | rs4536 |
GMAF | 0.1648 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
[PMID 21127960] Haplotype-Based Case-Control Study of the Human CYP11B2 Gene and Essential Hypertension in Yi and Hani Minorities of China
[PMID 21269059] Association of the human CYP11B2 gene and essential hypertension in southwest Han Chinese population: a haplotype-based case-control study.
ClinVar | |
---|---|
Risk | rs4536(A;A) |
Alt | rs4536(A;A) |
Reference | Rs4536(G;G) |
Significance | Non-pathogenic |
Disease | Hyperaldosteronism Corticosterone methyloxidase type 1 deficiency Corticosterone methyloxidase type 2 deficiency |
Variation | info |
Gene | CYP11B2 |
CLNDBN | Hyperaldosteronism, familial, type I Corticosterone methyloxidase type 1 deficiency Corticosterone methyloxidase type 2 deficiency |
Reversed | 1 |
HGVS | NC_000008.10:g.143995761C>T |
CLNSRC | |
CLNACC | RCV000263084.1, RCV000315890.1, RCV000354330.1, |