rs61759861
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs61759861(A;A) |
Make rs61759861(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 6374444 |
Gene | LOC105369626, LTBR, SCNN1A |
is a | snp |
is | mentioned by |
dbSNP | rs61759861 |
dbSNP (classic) | rs61759861 |
ClinGen | rs61759861 |
ebi | rs61759861 |
HLI | rs61759861 |
Exac | rs61759861 |
Gnomad | rs61759861 |
Varsome | rs61759861 |
LitVar | rs61759861 |
Map | rs61759861 |
PheGenI | rs61759861 |
Biobank | rs61759861 |
1000 genomes | rs61759861 |
hgdp | rs61759861 |
ensembl | rs61759861 |
geneview | rs61759861 |
scholar | rs61759861 |
rs61759861 | |
pharmgkb | rs61759861 |
gwascentral | rs61759861 |
openSNP | rs61759861 |
23andMe | rs61759861 |
SNPshot | rs61759861 |
SNPdbe | rs61759861 |
MSV3d | rs61759861 |
GWAS Ctlg | rs61759861 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61759861(A;A) |
Alt | rs61759861(A;A) |
Reference | Rs61759861(G;G) |
Significance | Pathogenic |
Disease | Bronchiectasis with or without elevated sweat chloride 2 |
Variation | info |
Gene | SCNN1A LTBR |
CLNDBN | Bronchiectasis with or without elevated sweat chloride 2 |
Reversed | 1 |
HGVS | NC_000012.11:g.6483610C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000009850.2, |