rs780175755
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AG;AG) | 0 | common in clinvar |
Make rs780175755(-;-) |
Make rs780175755(-;AG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 180659759 |
Gene | CCDC39 |
is a | snp |
is | mentioned by |
dbSNP | rs780175755 |
dbSNP (classic) | rs780175755 |
ClinGen | rs780175755 |
ebi | rs780175755 |
HLI | rs780175755 |
Exac | rs780175755 |
Gnomad | rs780175755 |
Varsome | rs780175755 |
LitVar | rs780175755 |
Map | rs780175755 |
PheGenI | rs780175755 |
Biobank | rs780175755 |
1000 genomes | rs780175755 |
hgdp | rs780175755 |
ensembl | rs780175755 |
geneview | rs780175755 |
scholar | rs780175755 |
rs780175755 | |
pharmgkb | rs780175755 |
gwascentral | rs780175755 |
openSNP | rs780175755 |
23andMe | rs780175755 |
SNPshot | rs780175755 |
SNPdbe | rs780175755 |
MSV3d | rs780175755 |
GWAS Ctlg | rs780175755 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs780175755(-;-) |
Alt | rs780175755(-;-) |
Reference | Rs780175755(AG;AG) |
Significance | Pathogenic |
Disease | Primary ciliary dyskinesia |
Variation | info |
Gene | CCDC39 |
CLNDBN | Primary ciliary dyskinesia |
Reversed | 0 |
HGVS | NC_000003.11:g.180377547_180377548delAG |
CLNSRC | |
CLNACC | RCV000168290.1, |