rs5736
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs5736(A;A) |
Make rs5736(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 23189600 |
Gene | SCNN1G |
is a | snp |
is | mentioned by |
dbSNP | rs5736 |
dbSNP (classic) | rs5736 |
ClinGen | rs5736 |
ebi | rs5736 |
HLI | rs5736 |
Exac | rs5736 |
Gnomad | rs5736 |
Varsome | rs5736 |
LitVar | rs5736 |
Map | rs5736 |
PheGenI | rs5736 |
Biobank | rs5736 |
1000 genomes | rs5736 |
hgdp | rs5736 |
ensembl | rs5736 |
geneview | rs5736 |
scholar | rs5736 |
rs5736 | |
pharmgkb | rs5736 |
gwascentral | rs5736 |
openSNP | rs5736 |
23andMe | rs5736 |
SNPshot | rs5736 |
SNPdbe | rs5736 |
MSV3d | rs5736 |
GWAS Ctlg | rs5736 |
GMAF | 0.01194 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs5736(A;A) |
Alt | rs5736(A;A) |
Reference | Rs5736(G;G) |
Significance | Pathogenic |
Disease | Bronchiectasis with or without elevated sweat chloride 3 not provided Pseudohypoaldosteronism Pseudoprimary hyperaldosteronism |
Variation | info |
Gene | SCNN1G |
CLNDBN | Bronchiectasis with or without elevated sweat chloride 3 not provided Pseudohypoaldosteronism, Type I, Recessive Pseudoprimary hyperaldosteronism |
Reversed | 0 |
HGVS | NC_000016.9:g.23200921G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000009376.2, RCV000224250.1, RCV000272918.1, RCV000328044.1, |