rs137852709
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs137852709(C;T) |
Make rs137852709(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 23367879 |
Gene | SCNN1B |
is a | snp |
is | mentioned by |
dbSNP | rs137852709 |
dbSNP (classic) | rs137852709 |
ClinGen | rs137852709 |
ebi | rs137852709 |
HLI | rs137852709 |
Exac | rs137852709 |
Gnomad | rs137852709 |
Varsome | rs137852709 |
LitVar | rs137852709 |
Map | rs137852709 |
PheGenI | rs137852709 |
Biobank | rs137852709 |
1000 genomes | rs137852709 |
hgdp | rs137852709 |
ensembl | rs137852709 |
geneview | rs137852709 |
scholar | rs137852709 |
rs137852709 | |
pharmgkb | rs137852709 |
gwascentral | rs137852709 |
openSNP | rs137852709 |
23andMe | rs137852709 |
SNPshot | rs137852709 |
SNPdbe | rs137852709 |
MSV3d | rs137852709 |
GWAS Ctlg | rs137852709 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137852709(T;T) |
Alt | rs137852709(T;T) |
Reference | Rs137852709(C;C) |
Significance | Pathogenic |
Disease | Bronchiectasis with or without elevated sweat chloride 1 |
Variation | info |
Gene | SCNN1B |
CLNDBN | Bronchiectasis with or without elevated sweat chloride 1 |
Reversed | 0 |
HGVS | NC_000016.9:g.23379200C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000009386.2, |