rs387906402
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs387906402(C;T) |
Make rs387906402(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 23380725 |
Gene | SCNN1B |
is a | snp |
is | mentioned by |
dbSNP | rs387906402 |
dbSNP (classic) | rs387906402 |
ClinGen | rs387906402 |
ebi | rs387906402 |
HLI | rs387906402 |
Exac | rs387906402 |
Gnomad | rs387906402 |
Varsome | rs387906402 |
LitVar | rs387906402 |
Map | rs387906402 |
PheGenI | rs387906402 |
Biobank | rs387906402 |
1000 genomes | rs387906402 |
hgdp | rs387906402 |
ensembl | rs387906402 |
geneview | rs387906402 |
scholar | rs387906402 |
rs387906402 | |
pharmgkb | rs387906402 |
gwascentral | rs387906402 |
openSNP | rs387906402 |
23andMe | rs387906402 |
SNPshot | rs387906402 |
SNPdbe | rs387906402 |
MSV3d | rs387906402 |
GWAS Ctlg | rs387906402 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906402(G;G) rs387906402(T;T) |
Alt | rs387906402(G;G) rs387906402(T;T) |
Reference | Rs387906402(C;C) |
Significance | Pathogenic |
Disease | Pseudoprimary hyperaldosteronism |
Variation | info |
Gene | SCNN1B |
CLNDBN | Pseudoprimary hyperaldosteronism |
Reversed | 0 |
HGVS | NC_000016.9:g.23392046C>G; NC_000016.9:g.23392046C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000009385.2, RCV000009379.3, |