rs878855280
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AT;AT) | 0 | common in clinvar |
Make rs878855280(-;-) |
Make rs878855280(-;AT) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 3 |
Position | 180663913 |
Gene | CCDC39 |
is a | snp |
is | mentioned by |
dbSNP | rs878855280 |
dbSNP (classic) | rs878855280 |
ClinGen | rs878855280 |
ebi | rs878855280 |
HLI | rs878855280 |
Exac | rs878855280 |
Gnomad | rs878855280 |
Varsome | rs878855280 |
LitVar | rs878855280 |
Map | rs878855280 |
PheGenI | rs878855280 |
Biobank | rs878855280 |
1000 genomes | rs878855280 |
hgdp | rs878855280 |
ensembl | rs878855280 |
geneview | rs878855280 |
scholar | rs878855280 |
rs878855280 | |
pharmgkb | rs878855280 |
gwascentral | rs878855280 |
openSNP | rs878855280 |
23andMe | rs878855280 |
SNPshot | rs878855280 |
SNPdbe | rs878855280 |
MSV3d | rs878855280 |
GWAS Ctlg | rs878855280 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878855280(-;-) |
Alt | rs878855280(-;-) |
Reference | Rs878855280(AT;AT) |
Significance | Pathogenic |
Disease | Primary ciliary dyskinesia |
Variation | info |
Gene | CCDC39 |
CLNDBN | Primary ciliary dyskinesia |
Reversed | 1 |
HGVS | NC_000003.11:g.180381701_180381702delAT |
CLNSRC | |
CLNACC | RCV000231675.1, |