rs387906778
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs387906778(A;G) |
Make rs387906778(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 128911745 |
Gene | KCNJ5 |
is a | snp |
is | mentioned by |
dbSNP | rs387906778 |
dbSNP (classic) | rs387906778 |
ClinGen | rs387906778 |
ebi | rs387906778 |
HLI | rs387906778 |
Exac | rs387906778 |
Gnomad | rs387906778 |
Varsome | rs387906778 |
LitVar | rs387906778 |
Map | rs387906778 |
PheGenI | rs387906778 |
Biobank | rs387906778 |
1000 genomes | rs387906778 |
hgdp | rs387906778 |
ensembl | rs387906778 |
geneview | rs387906778 |
scholar | rs387906778 |
rs387906778 | |
pharmgkb | rs387906778 |
gwascentral | rs387906778 |
openSNP | rs387906778 |
23andMe | rs387906778 |
SNPshot | rs387906778 |
SNPdbe | rs387906778 |
MSV3d | rs387906778 |
GWAS Ctlg | rs387906778 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906778(G;G) |
Alt | rs387906778(G;G) |
Reference | Rs387906778(A;A) |
Significance | Pathogenic |
Disease | Familial hyperaldosteronism type 3 Aldosterone-producing adrenal adenoma Andersen Tawil syndrome |
Variation | info |
Gene | KCNJ5 |
CLNDBN | Familial hyperaldosteronism type 3 Aldosterone-producing adrenal adenoma, somatic Andersen Tawil syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.128781640A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000023035.5, RCV000122747.4, RCV000194572.1, |