rs386352319
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs386352319(C;C) |
Make rs386352319(C;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 128911724 |
Gene | KCNJ5 |
is a | snp |
is | mentioned by |
dbSNP | rs386352319 |
dbSNP (classic) | rs386352319 |
ClinGen | rs386352319 |
ebi | rs386352319 |
HLI | rs386352319 |
Exac | rs386352319 |
Gnomad | rs386352319 |
Varsome | rs386352319 |
LitVar | rs386352319 |
Map | rs386352319 |
PheGenI | rs386352319 |
Biobank | rs386352319 |
1000 genomes | rs386352319 |
hgdp | rs386352319 |
ensembl | rs386352319 |
geneview | rs386352319 |
scholar | rs386352319 |
rs386352319 | |
pharmgkb | rs386352319 |
gwascentral | rs386352319 |
openSNP | rs386352319 |
23andMe | rs386352319 |
SNPshot | rs386352319 |
SNPdbe | rs386352319 |
MSV3d | rs386352319 |
GWAS Ctlg | rs386352319 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386352319(A;A) rs386352319(C;C) |
Alt | rs386352319(A;A) rs386352319(C;C) |
Reference | Rs386352319(G;G) |
Significance | Pathogenic |
Disease | not provided Aldosterone-producing adrenal adenoma Familial hyperaldosteronism type 3 |
Variation | info |
Gene | KCNJ5 |
CLNDBN | not provided Aldosterone-producing adrenal adenoma, somatic Familial hyperaldosteronism type 3 |
Reversed | 0 |
HGVS | NC_000011.9:g.128781619G>A; NC_000011.9:g.128781619G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000122472.1, RCV000122749.5, RCV000122750.3, RCV000122473.1, |