rs587778820
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs587778820(-;-) |
Make rs587778820(-;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 180619334 |
Gene | CCDC39 |
is a | snp |
is | mentioned by |
dbSNP | rs587778820 |
dbSNP (classic) | rs587778820 |
ClinGen | rs587778820 |
ebi | rs587778820 |
HLI | rs587778820 |
Exac | rs587778820 |
Gnomad | rs587778820 |
Varsome | rs587778820 |
LitVar | rs587778820 |
Map | rs587778820 |
PheGenI | rs587778820 |
Biobank | rs587778820 |
1000 genomes | rs587778820 |
hgdp | rs587778820 |
ensembl | rs587778820 |
geneview | rs587778820 |
scholar | rs587778820 |
rs587778820 | |
pharmgkb | rs587778820 |
gwascentral | rs587778820 |
openSNP | rs587778820 |
23andMe | rs587778820 |
SNPshot | rs587778820 |
SNPdbe | rs587778820 |
MSV3d | rs587778820 |
GWAS Ctlg | rs587778820 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587778820(-;-) |
Alt | rs587778820(-;-) |
Reference | Rs587778820(A;A) |
Significance | Pathogenic |
Disease | Ciliary dyskinesia |
Variation | info |
Gene | CCDC39 |
CLNDBN | Ciliary dyskinesia, primary, 14 |
Reversed | 1 |
HGVS | NC_000003.11:g.180337122delT |
CLNSRC | |
CLNACC | RCV000056197.1, |