rs587778822
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs587778822(-;-) |
Make rs587778822(-;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 180651496 |
Gene | CCDC39 |
is a | snp |
is | mentioned by |
dbSNP | rs587778822 |
dbSNP (classic) | rs587778822 |
ClinGen | rs587778822 |
ebi | rs587778822 |
HLI | rs587778822 |
Exac | rs587778822 |
Gnomad | rs587778822 |
Varsome | rs587778822 |
LitVar | rs587778822 |
Map | rs587778822 |
PheGenI | rs587778822 |
Biobank | rs587778822 |
1000 genomes | rs587778822 |
hgdp | rs587778822 |
ensembl | rs587778822 |
geneview | rs587778822 |
scholar | rs587778822 |
rs587778822 | |
pharmgkb | rs587778822 |
gwascentral | rs587778822 |
openSNP | rs587778822 |
23andMe | rs587778822 |
SNPshot | rs587778822 |
SNPdbe | rs587778822 |
MSV3d | rs587778822 |
GWAS Ctlg | rs587778822 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587778822(-;-) |
Alt | rs587778822(-;-) |
Reference | Rs587778822(A;A) |
Significance | Pathogenic |
Disease | Ciliary dyskinesia |
Variation | info |
Gene | CCDC39 |
CLNDBN | Ciliary dyskinesia, primary, 14 |
Reversed | 1 |
HGVS | NC_000003.11:g.180369284delT |
CLNSRC | |
CLNACC | RCV000056245.1, |